| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 7508 |
Name | XPC |
Synonymous | RAD4|XP3|XPCC;xeroderma pigmentosum, complementation group C;XPC;xeroderma pigmentosum, complementation group C |
Definition | DNA repair protein complementing XP-C cells|mutant xeroderma pigmentosum group C|p125 |
Position | 3p25 |
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) |
|---|---|---|
XPC_E838_E14splice_region; chr3; 14189402 |
SUB; SPLICE_REGION; G; A/A; GERMLINE | HYPO; PUTATIVE-HQ; EXOME |
PCGP somatic mutation [Top] | ||
There is no record for XPC | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.506C>T; p.T169M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2404G>A; p.G802S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.101_103delAGG; p.E34delE; |
NS | malignant_melanoma |
c.2224C>G; p.Q742E; |
breast | carcinoma; HER-positive_carcinoma |
c.1317T>A; p.A439A; |
liver | carcinoma |
c.1765_1766TG>CA; p.W589Q; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.1812C>T; p.A604A; |
oesophagus | carcinoma; adenocarcinoma |
c.308C>T; p.P103L; |
liver | carcinoma |
c.101_103delAGG; p.E34delE; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.1442A>G; p.K481R; |
lung | carcinoma; adenocarcinoma |
c.1318G>T; p.G440C; |
lung | carcinoma; adenocarcinoma |
c.1284G>A; p.V428V; |
NS | NS |
c.1922A>G; p.Y641C; |
prostate | carcinoma |
c.59A>T; p.K20I; |
autonomic_ganglia | neuroblastoma |
c.363C>A; p.D121E; 3:14186991-14186991 |
ovary | carcinoma; serous_carcinoma |
c.1160A>C; p.K387T; 3:14175227-14175227 |
ovary | carcinoma; serous_carcinoma |
c.2269G>C; p.G757R; |
ovary | carcinoma; serous_carcinoma |
c.1554G>C; p.E518D; |
ovary | carcinoma; serous_carcinoma |
c.1227G>T; p.Q409H; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.1766G>C; p.W589S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.17C>T; p.A6V; |
lung; middle_lobe | carcinoma; adenocarcinoma |
c.1057G>T; p.V353F; |
lung | carcinoma; squamous_cell_carcinoma |
c.1547A>T; p.D516V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.351C>A; p.T117T; |
lung | carcinoma; squamous_cell_carcinoma |
c.2224C>G; p.Q742E; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1984G>A; p.E662K; |
breast | carcinoma |
c.2196G>A; p.L732L; |
breast | carcinoma |
c.810A>C; p.E270D; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2144G>A; p.R715Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1497G>A; p.A499A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2481T>C; p.N827N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.578C>T; p.A193V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.572G>A; p.R191Q; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.321G>T; p.K107N; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.439G>A; p.V147M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1376A>T; p.D459V; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.878G>A; p.R293Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2237C>A; p.A746D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.671G>A; p.C224Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.996G>T; p.K332N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.584A>C; p.K195T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2012G>A; p.R671H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2781G>T; p.K927N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.199G>T; p.A67S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2419G>A; p.V807M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2546A>C; p.K849T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2544G>T; p.W848C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2067G>A; p.T689T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.308C>A; p.P103Q; |
urinary_tract; bladder | carcinoma |
c.1415delC; p.A472fs*54; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1414G>C; p.A472P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.507G>A; p.T169T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1755C>T; p.Y585Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2017G>A; p.E673K; |
breast | carcinoma |
c.362A>G; p.D121G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2145G>A; p.R715R; |
breast | carcinoma |
c.362A>G; p.D121G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.362A>G; p.D121G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.378G>A; p.E126E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.316C>A; p.L106I; |
prostate | carcinoma; adenocarcinoma |