| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 9135 |
Name | RABEP1 |
Synonymous | rabaptin, RAB GTPase binding effector protein 1;RABEP1;rabaptin, RAB GTPase binding effector protein 1 |
Definition | neurocrescin|rab GTPase-binding effector protein 1|rabaptin-4|rabaptin-5|rabaptin-5alpha|renal carcinoma antigen NY-REN-17 |
Position | 17p13.2 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.2278T>C; p.S760P; 17:5380370-5380370 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1088A>G; p.N363S; 17:5354483-5354483 |
NS | NS | Substitution - Missense |
c.1334C>G; p.A445G; 17:5361446-5361446 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.2054G>A; p.R685H; 17:5377144-5377144 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome | Substitution - Missense |
c.614C>A; p.A205D; 17:5338104-5338104 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1717A>G; p.K573E; 17:5365170-5365170 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.2376C>T; p.T792T; 17:5381394-5381394 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.2490G>A; p.V830V; 17:5383124-5383124 |
ovary | carcinoma; serous_carcinoma | Substitution - coding silent |