Identity
HGNC
LOCATION
20p11.21
LOCUSID
ALIAS
SNAP-BETA,SNAPB
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 63908
MIM: 611270
HGNC: 15751
Ensembl: ENSG00000125814
Variants:
dbSNP: 63908
ClinVar: 63908
TCGA: ENSG00000125814
COSMIC: NAPB
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000125814 | ENST00000377026 | Q9H115 |
| ENSG00000125814 | ENST00000398425 | Q9H115 |
| ENSG00000125814 | ENST00000432543 | Q9H115 |
| ENSG00000125814 | ENST00000617876 | A0A087WZQ7 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37014259 | 2023 | NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant. | 2 |
| 37014259 | 2023 | NAPB and developmental and epileptic encephalopathy: Description of the electroclinical profile associated with a novel pathogenic variant. | 2 |
| 33189936 | 2021 | A novel NAPB splicing mutation identified by Trio-based exome sequencing is associated with early-onset epileptic encephalopathy. | 5 |
| 33189936 | 2021 | A novel NAPB splicing mutation identified by Trio-based exome sequencing is associated with early-onset epileptic encephalopathy. | 5 |
Citation
Dessen P
NAPB (NSF attachment protein beta)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56114/napb-(nsf-attachment-protein-beta)
