| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 2067 |
Name | ERCC1 |
Synonymous | COFS4|RAD10|UV20;excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence);ERCC1;excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) |
Definition | DNA excision repair protein ERCC-1 |
Position | 19q13.32 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for ERCC1 | ||
PCGP somatic mutation [Top] | ||
There is no record for ERCC1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.282C>T; p.P94P; |
ovary | other; neoplasm |
c.282C>T; p.P94P; |
ovary | other; neoplasm |
c.122G>A; p.R41Q; |
oesophagus | carcinoma; adenocarcinoma |
c.326G>A; p.G109D; |
liver | carcinoma |
c.795C>T; p.A265A; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.287C>T; p.A96V; |
lung | carcinoma; squamous_cell_carcinoma |
c.339G>A; p.L113L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.165G>A; p.A55A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.658G>A; p.A220T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.853C>A; p.L285M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.48G>A; p.P16P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.700C>T; p.R234W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.694G>A; p.V232I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.662A>T; p.D221V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.537G>T; p.Q179H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.350G>A; p.R117H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.345C>T; p.F115F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.184G>A; p.E62K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.782A>C; p.E261A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.385G>A; p.D129N; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.465G>A; p.G155G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.239C>G; p.S80*; |
breast | carcinoma |
c.468G>A; p.R156R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.287C>A; p.A96E; |
skin; ear | carcinoma; squamous_cell_carcinoma |
c.702+6G>A; p.?; |
stomach | adenocarcinoma |