| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 7515 |
Name | XRCC1 |
Synonymous | RCC;X-ray repair complementing defective repair in Chinese hamster cells 1;XRCC1;X-ray repair complementing defective repair in Chinese hamster cells 1 |
Definition | DNA repair protein XRCC1|X-ray repair cross-complementing protein 1|X-ray-repair, complementing defective, repair in Chinese hamster |
Position | 19q13.2 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
XRCC1_A605fs; chr19; 44047632 |
DEL; FRAMESHIFT; GERMLINE | HYPO; PUTATIVE-HQ; WGS |
PCGP somatic mutation [Top] | ||
There is no record for XRCC1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.1384C>T; p.P462S; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.103G>C; p.A35P; |
prostate | carcinoma |
c.1207A>G; p.M403V; |
lung | carcinoma; undifferentiated_carcinoma |
c.548A>T; p.N183I; 19:48749446-48749446 |
lung | carcinoma; adenocarcinoma |
c.808C>G; p.P270A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.641C>T; p.A214V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1270G>T; p.E424*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1798G>C; p.D600H; |
pancreas | carcinoma; acinar_carcinoma |
c.224C>T; p.S75L; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.320G>A; p.R107H; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.1048C>T; p.R350W; 19:48748043-48748043 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.920G>A; p.R307K; |
lung | carcinoma; small_cell_carcinoma |
c.1381T>C; p.S461P; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.737G>C; p.R246T; 19:48748875-48748875 |
ovary | carcinoma; serous_carcinoma |
c.243G>C; p.E81D; |
lung | carcinoma; squamous_cell_carcinoma |
c.174G>A; p.V58V; |
ovary | carcinoma; serous_carcinoma |
c.292G>A; p.E98K; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1200G>A; p.R400R; 19:48742969-48742969 |
ovary | carcinoma; serous_carcinoma |
c.1542G>C; p.P514P; |
ovary | carcinoma; serous_carcinoma |
c.1892C>T; p.P631L; |
lung | carcinoma; adenocarcinoma |
c.70C>T; p.L24F; |
breast | carcinoma |
c.1103C>T; p.P368L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1136G>A; p.R379H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.839G>A; p.R280H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1842T>C; p.S614S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1171C>T; p.R391C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.322G>A; p.V108I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1264G>A; p.G422R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1074G>A; p.T358T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1626C>A; p.F542L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1819G>A; p.V607I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.869G>A; p.R290Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.385A>G; p.K129E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1759G>A; p.A587T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.513C>A; p.G171G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1190C>T; p.P397L; |
breast | carcinoma |
c.52A>G; p.T18A; |
urinary_tract; bladder | carcinoma |
c.736A>G; p.R246G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1074G>A; p.T358T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.898C>T; p.R300*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.34T>C; p.C12R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.736A>G; p.R246G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1498G>A; p.E500K; |
urinary_tract; bladder | carcinoma |
c.1494G>A; p.Q498Q; |
urinary_tract; bladder | carcinoma |
c.1270G>A; p.E424K; |
urinary_tract; bladder | carcinoma |
c.736A>G; p.R246G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.976G>T; p.V326L; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |