| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 2068 |
Name | ERCC2 |
Synonymous | COFS2|EM9|TTD|XPD;excision repair cross-complementing rodent repair deficiency, complementation group 2;ERCC2;excision repair cross-complementing rodent repair deficiency, complementation group 2 |
Definition | BTF2 p80|CXPD|DNA excision repair protein ERCC-2|DNA repair protein complementing XP-D cells|TFIIH 80 kDa subunit|TFIIH basal transcription factor complex 80 kDa subunit|TFIIH basal transcription factor complex helicase XPD subunit|TFIIH basal transcripti |
Position | 19q13.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for ERCC2 | ||
PCGP somatic mutation [Top] | ||
There is no record for ERCC2 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1852G>A; p.V618I; 19:50547894-50547894 |
lung | carcinoma; adenocarcinoma |
c.335G>T; p.R112L; |
lung | carcinoma; undifferentiated_carcinoma |
c.477+9A>C; p.?; |
stomach | carcinoma; adenocarcinoma |
c.1299G>T; p.L433L; |
pancreas | NS |
c.1508C>G; p.A503G; |
ovary | carcinoma; serous_carcinoma |
c.1317C>T; p.D439D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1972C>T; p.R658C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1384T>C; p.S462P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1507G>A; p.A503T; |
large_intestine; colon | carcinoma; adenocarcinoma |