NF1 (neurofibromin 1)

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NF1 (neurofibromin 1)

Written	1997-09	Jean-Loup Huret
		Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Updated	2006-02	Katharina Wimmer
		Medizinische Universitüt Wien, Institut für Humangenetik, Klinischen Instituts für Medizinische und Chemische Labordiagnostik (KIMCL), Wühringerstrasse 10, 1090 Wien, è_sterreich, Austria

(Note : for Links provided by Atlas : click)

Identity

Other alias
HGNC (Hugo)	NF1
LocusID (NCBI)	4763
Atlas_Id	134
Location	17q11.2 [Link to chromosome band 17q11]
Location_base_pair	Starts at 31094927 and ends at 31377677 bp from pter ( according to hg19-Feb_2009) [Mapping NF1.png]

Fusion genes (updated 2016)	NF1 (17q11.2) / ABCB5 (7p21.1)	NF1 (17q11.2) / ACACA (17q12)	NF1 (17q11.2) / ANKFN1 (17q22)
	NF1 (17q11.2) / ASIC2 (17q11.2)	NF1 (17q11.2) / ATAD5 (17q11.2)	NF1 (17q11.2) / CACNA1G (17q21.33)
	NF1 (17q11.2) / CDK5RAP3 (17q21.32)	NF1 (17q11.2) / CLTC (17q23.1)	NF1 (17q11.2) / EPHB3 (3q27.1)
	NF1 (17q11.2) / EVI2A (17q11.2)	NF1 (17q11.2) / FAM160B1 (10q25.3)	NF1 (17q11.2) / GTF2IP1 (7q11.23)
	NF1 (17q11.2) / LRRC37B (17q11.2)	NF1 (17q11.2) / NF1 (17q11.2)	NF1 (17q11.2) / NLE1 (17q12)
	NF1 (17q11.2) / PDS5B (13q13.1)	NF1 (17q11.2) / PSMD11 (17q11.2)	NF1 (17q11.2) / RAB11FIP4 (17q11.2)
	NF1 (17q11.2) / SUPT6H (17q11.2)	NF1 (17q11.2) / TFDP1 (13q34)	NF1 (17q11.2) / TPMT (6p22.3)
	NF1 (17q11.2) / TRMT61B (2p23.2)	NF1 (17q11.2) / TXNL4A (18q23)	NLK (17q11.2) / NF1 (17q11.2)
	OMG (17q11.2) / NF1 (17q11.2)	RAB11FIP4 (17q11.2) / NF1 (17q11.2)	TMEM104 (17q25.1) / NF1 (17q11.2)
	ZKSCAN1 (7q22.1) / NF1 (17q11.2)

DNA/RNA

Description	60 exons (57 constitutive, 3 alternative); spans 280 kb; presence of 3 cryptic genes: OMGP, EVI2A, and EVI2B ('overlapping genes'), hidden (!) within NF1 intron 27b with an opposite transcription direction.
Transcription	at least 4 alternate splicings; ~ 9.0 kb mRNA complete cds; coding sequence: CDS 198..8717

Protein

Description	the protein has been called neurofibromin; 2818 and 2839 amino acids (type-1 and type-2 isoform)
Expression	is tissue and development stage specific
Function	GTPase activating protein (GAP) interacting with p21RAS -> tumour suppressor.
Homology	other (GAP); IRA1 and 2, the yeast inhibitors of p21RAS

Mutations

Germinal

large submicroscopic deletions in 5-10% of cases, translocations rare and point mutations in app. 85-90% of cases; widely dispersed, with no clustering, unusual splicing mutations yield difficulties in molecular genetic testing, truncating effect in large majority of cases.

Somatic

second inactivating mutation occurs in the Schwann cell of benign neurofibromas; additional genetic alterations in this cell lead to malignant transformation; the spectrum of inactivating somatic mutation not fully elucidated, LOH owing to copy number loss and mitotic recombination, point mutations; another inactivating process may involve RNA editing (for the second allele), which gives rise to a truncated neurofibromin having lost it's GAP activity.

Implicated in

Note

Entity	neurofibromatosis type 1
Disease	autosomal dominant cancer prone disease; neurofibromatosis type 1 (NF1: the same symbol is used for the disease neurofibromatosis type 1 and the gene neurofibromin 1) is an hamartoneoplastic syndrome.


Entity	Watson syndrome
Disease	autosomal dominant disease with cardiac malformations, and, as is found in von Recklinghausen neurofibromatosis, low normal intelligence, café-au-lait spots, and neurofibromas but to a lesser extend.
Oncogenesis	in accordance with the two-hit model for neoplasia, as is found in retinoblastoma.

Bibliography

Watson syndrome: is it a subtype of type 1 neurofibromatosis?

Allanson JE, Upadhyaya M, Watson GH, Partington M, MacKenzie A, Lahey D, MacLeod H, Sarfarazi M, Broadhead W, Harper PS

Journal of medical genetics. 1991 ; 28 (11) : 752-756.

PMID 1770531

A potential role for NF1 mRNA editing in the pathogenesis of NF1 tumors.

Cappione AJ, French BL, Skuse GR

American journal of human genetics. 1997 ; 60 (2) : 305-312.

PMID 9012403

A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations.

Cawthon RM, Weiss R, Xu GF, Viskochil D, Culver M, Stevens J, Robertson M, Dunn D, Gesteland R, O'Connell P

Cell. 1990 ; 62 (1) : 193-201.

PMID 2114220

NF1 gene mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome.

De Luca A, Bottillo I, Sarkozy A, Carta C, Neri C, Bellacchio E, Schirinzi A, Conti E, Zampino G, Battaglia A, Majore S, Rinaldi MM, Carella M, Marino B, Pizzuti A, Digilio MC, Tartaglia M, Dallapiccola B

American journal of human genetics. 2005 ; 77 (6) : 1092-1101.

PMID 16380919

High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene.

Kehrer-Sawatzki H, Kluwe L, Sandig C, Kohn M, Wimmer K, Krammer U, Peyrl A, Jenne DE, Hansmann I, Mautner VF

American journal of human genetics. 2004 ; 75 (3) : 410-423.

PMID 15257518

Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene.

Kluwe L, Siebert R, Gesk S, Friedrich RE, Tinschert S, Kehrer-Sawatzki H, Mautner VF

Human mutation. 2004 ; 23 (2) : 111-116.

PMID 14722914

Somatic deletion of the neurofibromatosis type 1 gene in a neurofibrosarcoma supports a tumour suppressor gene hypothesis.

Legius E, Marchuk DA, Collins FS, Glover TW

Nature genetics. 1993 ; 3 (2) : 122-126.

PMID 8499945

Genomic organization of the neurofibromatosis 1 gene (NF1).

Li Y, O'Connell P, Breidenbach HH, Cawthon R, Stevens J, Xu G, Neil S, Robertson M, White R, Viskochil D

Genomics. 1995 ; 25 (1) : 9-18.

PMID 7774960

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

Messiaen LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, Paepe AD

Human mutation. 2000 ; 15 (6) : 541-555.

PMID 10862084

Genetic and epigenetic mechanisms in the pathogenesis of neurofibromatosis type I.

Metheny LJ, Cappione AJ, Skuse GR

Journal of neuropathology and experimental neurology. 1995 ; 54 (6) : 753-760.

PMID 7595647

Mitotic recombination effects homozygosity for NF1 germline mutations in neurofibromas.

Serra E, Rosenbaum T, Nadal M, Winner U, Ars E, Estivill X, L´zaro C

Nature genetics. 2001 ; 28 (3) : 294-296.

PMID 11431704

Loss of the normal NF1 allele from the bone marrow of children with type 1 neurofibromatosis and malignant myeloid disorders.

Shannon KM, O'Connell P, Martin GA, Paderanga D, Olson K, Dinndorf P, McCormick F

The New England journal of medicine. 1994 ; 330 (9) : 597-601.

PMID 8302341

Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.

Tassabehji M, Strachan T, Sharland M, Colley A, Donnai D, Harris R, Thakker N

American journal of human genetics. 1993 ; 53 (1) : 90-95.

PMID 8317503

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

Viskochil D, Buchberg AM, Xu G, Cawthon RM, Stevens J, Wolff RK, Culver M, Carey JC, Copeland NG, Jenkins NA

Cell. 1990 ; 62 (1) : 187-192.

PMID 1694727

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients.

Wallace MR, Marchuk DA, Andersen LB, Letcher R, Odeh HM, Saulino AM, Fountain JW, Brereton A, Nicholson J, Mitchell AL

Science (New York, N.Y.). 1990 ; 249 (4965) : 181-186.

PMID 2134734

Spectrum of single- and multiexon NF1 copy number changes in a cohort of 1,100 unselected NF1 patients.

Wimmer K, Yao S, Claes K, Kehrer-Sawatzki H, Tinschert S, De Raedt T, Legius E, Callens T, Beiglböck H, Maertens O, Messiaen L

Genes, chromosomes & cancer. 2006 ; 45 (3) : 265-276.

PMID 16283621

Citation

This paper should be referenced as such :

Wimmer, K

NF1 (neurofibromin 1)

Atlas Genet Cytogenet Oncol Haematol. 2006;10(3):171-172.

Free journal version : [ pdf ] [ DOI ]

On line version : http://AtlasGeneticsOncology.org/Genes/NF1ID134.html

History of this paper:

Huret, JL. NF1 (neurofibromin 1). Atlas Genet Cytogenet Oncol Haematol. 1997;1(1):5-6.

http://documents.irevues.inist.fr/bitstream/handle/2042/32021/09-1997-NF1ID134.pdf

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]

Classification of myelodysplasic syndromes 1999
Juvenile Chronic Myelogenous Leukemia (JCML)

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 13 ]

Bladder: Urothelial carcinomas
Neuro-Endocrine/Endocrine System: Carcinoid tumors
Soft Tissues: Embryonal rhabdomyosarcoma
Head and Neck: Paraganglioma: an overview
Head and Neck: Iris Hamartomas
Nervous System: Neurofibroma
Nervous System: Optic nerve glioma
Nervous system: Peripheral nerve sheath tumors
Neuro-Endocrine/Endocrine System: Phaeochromocytoma
Soft Tissues: Rhabdomyosarcoma
Skin: Melanoma
Soft tissue tumors: an overview
Lung: Translocations in Adenocarcinoma

Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 3 ]

Familial nervous system tumour syndromes Hereditary paraganglioma (PGL) Neurofibromatosis type 1 (NF1)

External links

	Nomenclature
HGNC (Hugo)	NF1 7765
LRG (Locus Reference Genomic)	LRG_214
	Cards
Atlas	NF1ID134
Entrez_Gene (NCBI)	NF1 4763 neurofibromin 1
Aliases	NFNS; VRNF; WSS
GeneCards (Weizmann)	NF1
Ensembl hg19 (Hinxton)	ENSG00000196712 [Gene_View]
Ensembl hg38 (Hinxton)	ENSG00000196712 [Gene_View] chr17:31094927-31377677 [Contig_View] NF1 [Vega]
ICGC DataPortal	ENSG00000196712
TCGA cBioPortal	NF1
AceView (NCBI)	NF1
Genatlas (Paris)	NF1
WikiGenes	4763
SOURCE (Princeton)	NF1
Genetics Home Reference (NIH)	NF1
	Genomic and cartography
GoldenPath hg38 (UCSC)	NF1 - chr17:31094927-31377677 + 17q11.2 [Description] (hg38-Dec_2013)
GoldenPath hg19 (UCSC)	NF1 - 17q11.2 [Description] (hg19-Feb_2009)
Ensembl	NF1 - 17q11.2 [CytoView hg19] NF1 - 17q11.2 [CytoView hg38]
Mapping of homologs : NCBI	NF1 [Mapview hg19] NF1 [Mapview hg38]
OMIM	162200 162210 193520 601321 607785 613113
	Gene and transcription
Genbank (Entrez)	AB209336 AF055023 AF086346 AK024873 AK026658
RefSeq transcript (Entrez)	NM_000267 NM_001042492 NM_001128147
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)	NF1
Cluster EST : Unigene	Hs.113577 [ NCBI ]
CGAP (NCI)	Hs.113577
Alternative Splicing Gallery	ENSG00000196712
Gene Expression	NF1 [ NCBI-GEO ] NF1 [ EBI - ARRAY_EXPRESS ] NF1 [ SEEK ] NF1 [ MEM ]
Gene Expression Viewer (FireBrowse)	NF1 [ Firebrowse - Broad ]
SOURCE (Princeton)	Expression in : [Datasets] [Normal Tissue Atlas] [carcinoma Classsification] [NCI60]
Genevisible	Expression in : [tissues] [cell-lines] [cancer] [perturbations]
BioGPS (Tissue expression)	4763
GTEX Portal (Tissue expression)	NF1
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	P21359 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction]
NextProt	P21359 [Sequence] [Exons] [Medical] [Publications]
With graphics : InterPro	P21359
Splice isoforms : SwissVar	P21359
PhosPhoSitePlus	P21359
Domaine pattern : Prosite (Expaxy)	CRAL_TRIO (PS50191) RAS_GTPASE_ACTIV_1 (PS00509) RAS_GTPASE_ACTIV_2 (PS50018)
Domains : Interpro (EBI)	ARM-like ARM-type_fold CRAL-TRIO_dom Neurofibromin RasGAP_CS RasGAP_dom Rho_GTPase_activation_prot
Domain families : Pfam (Sanger)	CRAL_TRIO_2 (PF13716) RasGAP (PF00616)
Domain families : Pfam (NCBI)	pfam13716 pfam00616
Domain families : Smart (EMBL)	RasGAP (SM00323) SEC14 (SM00516)
Conserved Domain (NCBI)	NF1
DMDM Disease mutations	4763
Blocks (Seattle)	NF1
PDB (SRS)	1NF1 2D4Q 2E2X 3P7Z 3PEG 3PG7
PDB (PDBSum)	1NF1 2D4Q 2E2X 3P7Z 3PEG 3PG7
PDB (IMB)	1NF1 2D4Q 2E2X 3P7Z 3PEG 3PG7
PDB (RSDB)	1NF1 2D4Q 2E2X 3P7Z 3PEG 3PG7
Structural Biology KnowledgeBase	1NF1 2D4Q 2E2X 3P7Z 3PEG 3PG7
SCOP (Structural Classification of Proteins)	1NF1 2D4Q 2E2X 3P7Z 3PEG 3PG7
CATH (Classification of proteins structures)	1NF1 2D4Q 2E2X 3P7Z 3PEG 3PG7
Superfamily	P21359
Human Protein Atlas	ENSG00000196712
Peptide Atlas	P21359
HPRD	01203
IPI	IPI00299512 IPI00304235 IPI00220514 IPI00909675 IPI00910794 IPI00163320 IPI00815649 IPI00220513 IPI00790152
	Protein Interaction databases
DIP (DOE-UCLA)	P21359
IntAct (EBI)	P21359
FunCoup	ENSG00000196712
BioGRID	NF1
STRING (EMBL)	NF1
ZODIAC	NF1
	Ontologies - Pathways
QuickGO	P21359
Ontology : AmiGO	MAPK cascade MAPK cascade osteoblast differentiation metanephros development response to hypoxia liver development negative regulation of endothelial cell proliferation positive regulation of endothelial cell proliferation regulation of cell-matrix adhesion negative regulation of cell-matrix adhesion GTPase activator activity protein binding nucleus nucleolus cytoplasm cytoplasm cytosol negative regulation of protein kinase activity cell communication Ras protein signal transduction negative regulation of neuroblast proliferation brain development peripheral nervous system development heart development skeletal muscle tissue development phosphatidylethanolamine binding visual learning extrinsic apoptotic signaling pathway via death domain receptors regulation of gene expression Schwann cell development phosphatidylinositol 3-kinase signaling membrane negative regulation of angiogenesis spinal cord development amygdala development forebrain astrocyte development neural tube development cerebral cortex development myelination in peripheral nervous system actin cytoskeleton organization extracellular matrix organization collagen fibril organization adrenal gland development negative regulation of cell migration axon dendrite phosphatidylcholine binding intrinsic component of the cytoplasmic side of the plasma membrane regulation of synaptic transmission, GABAergic cellular response to heat negative regulation of Rac protein signal transduction wound healing negative regulation of transcription factor import into nucleus positive regulation of apoptotic process regulation of GTPase activity negative regulation of MAP kinase activity negative regulation of MAPK cascade negative regulation of MAPK cascade pigmentation positive regulation of neuron apoptotic process regulation of blood vessel endothelial cell migration positive regulation of GTPase activity positive regulation of GTPase activity positive regulation of GTPase activity regulation of bone resorption negative regulation of osteoclast differentiation regulation of glial cell differentiation positive regulation of adenylate cyclase activity regulation of angiogenesis negative regulation of Ras protein signal transduction negative regulation of neurotransmitter secretion negative regulation of fibroblast proliferation regulation of long-term neuronal synaptic plasticity sympathetic nervous system development camera-type eye morphogenesis negative regulation of astrocyte differentiation negative regulation of oligodendrocyte differentiation smooth muscle tissue development hair follicle maturation artery morphogenesis forebrain morphogenesis cognition gamma-aminobutyric acid secretion, neurotransmission glutamate secretion, neurotransmission observational learning presynapse regulation of long-term synaptic potentiation positive regulation of extrinsic apoptotic signaling pathway via death domain receptors positive regulation of extrinsic apoptotic signaling pathway in absence of ligand
Ontology : EGO-EBI	MAPK cascade MAPK cascade osteoblast differentiation metanephros development response to hypoxia liver development negative regulation of endothelial cell proliferation positive regulation of endothelial cell proliferation regulation of cell-matrix adhesion negative regulation of cell-matrix adhesion GTPase activator activity protein binding nucleus nucleolus cytoplasm cytoplasm cytosol negative regulation of protein kinase activity cell communication Ras protein signal transduction negative regulation of neuroblast proliferation brain development peripheral nervous system development heart development skeletal muscle tissue development phosphatidylethanolamine binding visual learning extrinsic apoptotic signaling pathway via death domain receptors regulation of gene expression Schwann cell development phosphatidylinositol 3-kinase signaling membrane negative regulation of angiogenesis spinal cord development amygdala development forebrain astrocyte development neural tube development cerebral cortex development myelination in peripheral nervous system actin cytoskeleton organization extracellular matrix organization collagen fibril organization adrenal gland development negative regulation of cell migration axon dendrite phosphatidylcholine binding intrinsic component of the cytoplasmic side of the plasma membrane regulation of synaptic transmission, GABAergic cellular response to heat negative regulation of Rac protein signal transduction wound healing negative regulation of transcription factor import into nucleus positive regulation of apoptotic process regulation of GTPase activity negative regulation of MAP kinase activity negative regulation of MAPK cascade negative regulation of MAPK cascade pigmentation positive regulation of neuron apoptotic process regulation of blood vessel endothelial cell migration positive regulation of GTPase activity positive regulation of GTPase activity positive regulation of GTPase activity regulation of bone resorption negative regulation of osteoclast differentiation regulation of glial cell differentiation positive regulation of adenylate cyclase activity regulation of angiogenesis negative regulation of Ras protein signal transduction negative regulation of neurotransmitter secretion negative regulation of fibroblast proliferation regulation of long-term neuronal synaptic plasticity sympathetic nervous system development camera-type eye morphogenesis negative regulation of astrocyte differentiation negative regulation of oligodendrocyte differentiation smooth muscle tissue development hair follicle maturation artery morphogenesis forebrain morphogenesis cognition gamma-aminobutyric acid secretion, neurotransmission glutamate secretion, neurotransmission observational learning presynapse regulation of long-term synaptic potentiation positive regulation of extrinsic apoptotic signaling pathway via death domain receptors positive regulation of extrinsic apoptotic signaling pathway in absence of ligand
Pathways : BIOCARTA	Chromatin Remodeling by hSWI/SNF ATP-dependent Complexes [Genes]
Pathways : KEGG	MAPK signaling pathway Ras signaling pathway
REACTOME	P21359 [protein]
REACTOME Pathways	R-HSA-8849471 [pathway]
NDEx Network	NF1
Atlas of Cancer Signalling Network	NF1
Wikipedia pathways	NF1
	Orthology - Evolution
OrthoDB	4763
GeneTree (enSembl)	ENSG00000196712
Phylogenetic Trees/Animal Genes : TreeFam	NF1
HOVERGEN	P21359
HOGENOM	P21359
Homologs : HomoloGene	NF1
Homology/Alignments : Family Browser (UCSC)	NF1
	Gene fusions - Rearrangements
Fusion : Mitelman	NF1/ABCB5 [17q11.2/7p21.1]
Fusion : Mitelman	NF1/ACACA [17q11.2/17q12] [t(17;17)(q11;q12)]
Fusion : Mitelman	NF1/ANKFN1 [17q11.2/17q22] [t(17;17)(q11;q22)]
Fusion : Mitelman	NF1/ATAD5 [17q11.2/17q11.2] [t(17;17)(q11;q11)]
Fusion : Mitelman	NF1/CACNA1G [17q11.2/17q21.33] [t(17;17)(q11;q21)]
Fusion : Mitelman	NF1/CDK5RAP3 [17q11.2/17q21.32] [t(17;17)(q11;q21)]
Fusion : Mitelman	NF1/CLTC [17q11.2/17q23.1] [t(17;17)(q11;q23)]
Fusion : Mitelman	NF1/LRRC37B [17q11.2/17q11.2] [t(17;17)(q11;q11)]
Fusion : Mitelman	NF1/NLE1 [17q11.2/17q12] [t(17;17)(q11;q12)]
Fusion : Mitelman	NF1/PDS5B [17q11.2/13q13.1] [t(13;17)(q13;q11)]
Fusion : Mitelman	NF1/PSMD11 [17q11.2/17q11.2] [t(17;17)(q11;q11)]
Fusion : Mitelman	NF1/TPMT [17q11.2/6p22.3] [t(6;17)(p22;q11)]
Fusion : Mitelman	NF1/TRMT61B [17q11.2/2p23.2] [t(2;17)(p23;q11)]
Fusion : Mitelman	NLK/NF1 [17q11.2/17q11.2] [t(17;17)(q11;q11)]
Fusion : COSMIC	NF1 [17q11.2] - ASIC2 [17q11.2] [fusion_693] [fusion_694]
Fusion: TCGA	NF1 17q11.2 ABCB5 7p21.1 BRCA
Fusion: TCGA	NF1 17q11.2 ACACA 17q12 BRCA
Fusion: TCGA	NF1 17q11.2 ANKFN1 17q22 BRCA
Fusion: TCGA	NF1 17q11.2 ATAD5 17q11.2 BRCA
Fusion: TCGA	NF1 17q11.2 CACNA1G 17q21.33 BRCA
Fusion: TCGA	NF1 17q11.2 CDK5RAP3 17q21.32 BRCA
Fusion: TCGA	NF1 17q11.2 CLTC 17q23.1 BRCA
Fusion: TCGA	NF1 17q11.2 NLE1 17q12 BRCA
Fusion: TCGA	NF1 17q11.2 PDS5B 13q13.1 BRCA
Fusion: TCGA	NF1 17q11.2 PSMD11 17q11.2 LUAD
Fusion: TCGA	NF1 17q11.2 TPMT 6p22.3 OV
Fusion: TCGA	NF1 17q11.2 TRMT61B 2p23.2 LGG
Fusion: TCGA	NLK 17q11.2 NF1 17q11.2 LUAD
	Polymorphisms : SNP and Copy number variants
NCBI Variation Viewer	NF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	NF1
dbVar	NF1
ClinVar	NF1
1000_Genomes	NF1
Exome Variant Server	NF1
ExAC (Exome Aggregation Consortium)	NF1 (select the gene name)
Genetic variants : HAPMAP	4763
Genomic Variants (DGV)	NF1 [DGVbeta]
DECIPHER	NF1 [patients] [syndromes] [variants] [genes]
CONAN: Copy Number Analysis	NF1
	Mutations
ICGC Data Portal	NF1
TCGA Data Portal	NF1
Broad Tumor Portal	NF1
OASIS Portal	NF1 [ Somatic mutations - Copy number]
Cancer Gene: Census	NF1
Somatic Mutations in Cancer : COSMIC	NF1 [overview] [genome browser] [tissue] [distribution]
Mutations and Diseases : HGMD	NF1
intOGen Portal	NF1
LOVD (Leiden Open Variation Database)	Whole genome datasets
LOVD (Leiden Open Variation Database)	LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)	LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)	Mendelian genes
LOVD (Leiden Open Variation Database)	SpainMDB
BioMuta	search NF1
DgiDB (Drug Gene Interaction Database)	NF1
DoCM (Curated mutations)	NF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)	NF1 (select a term)
intoGen	NF1
NCG5 (London)	NF1
Cancer3D	NF1(select the gene name)
Impact of mutations	[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
	Diseases
OMIM	162200 162210 193520 601321 607785 613113
Orphanet	930 16905 22341 11747 12945
Medgen	NF1
Genetic Testing Registry	NF1
NextProt	P21359 [Medical]
TSGene	4763
GENETests	NF1
Target Validation	NF1
Huge Navigator	NF1 [HugePedia]
snp3D : Map Gene to Disease	4763
BioCentury BCIQ	NF1
ClinGen	NF1 (curated)
	Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD	4763
Chemical/Pharm GKB Gene	PA31572
Drug Sensitivity	NF1
Clinical trial	NF1
	Miscellaneous
canSAR (ICR)	NF1 (select the gene name)
Other database	http://cancergenome.broadinstitute.org/index.php?tgene=NF1
	Probes
	Litterature
PubMed	403 Pubmed reference(s) in Entrez
GeneRIFs	Gene References Into Functions (Entrez)
CoreMine	NF1
EVEX	NF1
GoPubMed	NF1
iHOP	NF1

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI NCBI

indexed on : Fri Jun 30 11:13:11 CEST 2017

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