NRAP (nebulin related anchoring protein)

2014-11-01  

Identity

HGNC
LOCATION
10q25.3
LOCUSID
ALIAS
N-RAP

Other Information

Locus ID:

NCBI: 4892
MIM: 602873
HGNC: 7988
Ensembl: ENSG00000197893

Variants:

dbSNP: 4892
ClinVar: 4892
TCGA: ENSG00000197893
COSMIC: NRAP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197893ENST00000359988Q86VF7
ENSG00000197893ENST00000360478Q86VF7
ENSG00000197893ENST00000369358A0A0A0MRM2
ENSG00000197893ENST00000369360Q86VF7

Expression (GTEx)

0
500
1000
1500

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
335348212021Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.7
335348212021Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.7
286113992017Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy.17
286113992017Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy.17
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
208088252010Novel association strategy with copy number variation for identifying new risk Loci of human diseases.14
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
208088252010Novel association strategy with copy number variation for identifying new risk Loci of human diseases.14
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.83
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.83
127896642003Genomic organization, alternative splicing, and expression of human and mouse N-RAP, a nebulin-related LIM protein of striated muscle.16
127896642003Genomic organization, alternative splicing, and expression of human and mouse N-RAP, a nebulin-related LIM protein of striated muscle.16

Citation

Dessen P

NRAP (nebulin related anchoring protein)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70962/nrap-(nebulin-related-anchoring-protein)