| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 2068 |
Name | ERCC2 |
Synonymous | excision repair cross-complementation group 2;ERCC2;excision repair cross-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 XPB subunit|TFIIH basal transcripti |
Position | 19q13.3 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1384T>C; p.S462P; 19:45357365-45357365 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1299G>T; p.L433L; 19:45357638-45357638 |
pancreas | NS | Substitution - coding silent |
c.1972C>T; p.R658C; 19:45352580-45352580 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1508C>G; p.A503G; 19:45355700-45355700 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1317C>T; p.D439D; 19:45357534-45357534 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1852G>A; p.V618I; 19:45352796-45352796 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.477+9A>C; p.?; 19:45365033-45365033 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.335G>T; p.R112L; 19:45368655-45368655 |
lung | carcinoma; undifferentiated_carcinoma | Substitution - Missense |
c.1507G>A; p.A503T; 19:45355701-45355701 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |