| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 7507 |
Name | XPA |
Synonymous | XP1|XPAC;xeroderma pigmentosum, complementation group A;XPA;xeroderma pigmentosum, complementation group A |
Definition | DNA repair protein complementing XP-A cells|excision repair-controlling|xeroderma pigmentosum group A-complementing protein |
Position | 9q22.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for XPA | ||
PCGP somatic mutation [Top] | ||
There is no record for XPA | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.596C>T; p.A199V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.661A>G; p.K221E; |
breast | carcinoma; HER-positive_carcinoma |
c.634G>A; p.E212K; |
lung | carcinoma; adenocarcinoma |
c.745G>C; p.E249Q; |
prostate | carcinoma |
c.441A>G; p.E147E; |
lung | carcinoma; small_cell_carcinoma |
c.16G>T; p.G6W; |
lung | carcinoma; squamous_cell_carcinoma |
c.218G>A; p.G73E; |
lung | carcinoma; adenocarcinoma |
c.16G>A; p.G6R; |
lung | carcinoma; squamous_cell_carcinoma |
c.250G>T; p.E84*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.699C>T; p.S233S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.700G>A; p.V234M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.673+1G>A; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.725A>T; p.H242L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.484C>G; p.L162V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.316G>A; p.E106K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.716C>T; p.T239M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.620G>A; p.R207Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.331G>T; p.E111*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.717G>A; p.T239T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.193G>A; p.A65T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.643A>T; p.K215*; |
prostate | carcinoma; adenocarcinoma |