XPC Chromosome 3
XPC complex subunit, DNA damage recognition and repair factor
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What This Gene Does
The protein encoded by this gene is a key component of the XPC complex, which plays an important role in the early steps of global genome nucleotide excision repair (NER). The encoded protein is important for damage sensing and DNA binding, and shows a preference for single-stranded DNA. Mutations in this gene or some other NER components can result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
Xeroderma pigmentosum complementation groups
Locus Type
gene with protein product
Location
3p25.1
Ensembl
ENSG00000154767
Associated Conditions (11)
Xeroderma pigmentosum
group C
XPC-related disorder
Inborn genetic diseases
Ovarian cancer
Hereditary cancer
Melanoma
Sarcoma
Xeroderma pigmentosum group A
Familial prostate cancer
See cases
Key Variants
RS1210551886
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, Xeroderma pigmentosum
Health Risk
RS121965090
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, group C, Xeroderma pigmentosum
Health Risk
RS1695570524
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, Xeroderma pigmentosum
Health Risk
RS182189497
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, group C, XPC-related disorder
Health Risk
RS182782193
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, group C, Xeroderma pigmentosum
Health Risk
RS183238369
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, group C, Xeroderma pigmentosum
Health Risk
RS184879571
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, group C, Xeroderma pigmentosum
Health Risk
RS187340581
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, group C, Xeroderma pigmentosum
Health Risk
RS199838876
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, group C, Xeroderma pigmentosum
Health Risk
RS201446851
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, group C, Xeroderma pigmentosum
Health Risk
RS201597537
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, group C, Xeroderma pigmentosum
Health Risk
RS367953088
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (224)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2125039231 | Health Risk | Pathogenic | — |
| RS2125040590 | Health Risk | Pathogenic | — |
| RS2125045819 | Health Risk | Pathogenic | — |
| RS2125046000 | Health Risk | Pathogenic | — |
| RS2125053499 | Health Risk | Pathogenic | — |
| RS2228004 | Health Risk | Pathogenic | — |
| RS2470219605 | Health Risk | Pathogenic | — |
| RS2470222524 | Health Risk | Pathogenic | — |
| RS2470222613 | Health Risk | Pathogenic | — |
| RS2470225400 | Health Risk | Pathogenic | — |
| RS2470225440 | Health Risk | Pathogenic | — |
| RS2470227119 | Health Risk | Pathogenic | Xeroderma pigmentosum, group C, Xeroderma pigmentosum |
| RS2470227142 | Health Risk | Pathogenic | — |
| RS2470227355 | Health Risk | Pathogenic | Xeroderma pigmentosum, group C, Xeroderma pigmentosum |
| RS2470251336 | Health Risk | Pathogenic | — |
| RS2470251809 | Health Risk | Pathogenic | — |
| RS2470256831 | Health Risk | Pathogenic | — |
| RS2470257742 | Health Risk | Pathogenic | — |
| RS2470257898 | Health Risk | Pathogenic | — |
| RS2470258015 | Health Risk | Pathogenic | — |
| RS2470258125 | Health Risk | Pathogenic | — |
| RS2470258893 | Health Risk | Pathogenic | Xeroderma pigmentosum, group C, Xeroderma pigmentosum |
| RS2470261221 | Health Risk | Pathogenic | — |
| RS2470278600 | Health Risk | Pathogenic | — |
| RS2470278780 | Health Risk | Pathogenic | — |
| RS2470295556 | Health Risk | Pathogenic | — |
| RS2470303543 | Health Risk | Pathogenic | — |
| RS2470304057 | Health Risk | Pathogenic | Xeroderma pigmentosum, group C, Xeroderma pigmentosum |
| RS2470320911 | Health Risk | Pathogenic | — |
| RS372048184 | Health Risk | Pathogenic | — |
| RS3731139 | Health Risk | Pathogenic | Xeroderma pigmentosum, group C, Xeroderma pigmentosum |
| RS373519125 | Health Risk | Pathogenic | Xeroderma pigmentosum, group C, Xeroderma pigmentosum |
| RS374117852 | Health Risk | Pathogenic | Xeroderma pigmentosum, group C, Xeroderma pigmentosum |
| RS745679643 | Health Risk | Pathogenic | Xeroderma pigmentosum, group C, Xeroderma pigmentosum |
| RS746250060 | Health Risk | Pathogenic | Xeroderma pigmentosum, group C, Xeroderma pigmentosum |
| RS746319045 | Health Risk | Pathogenic | Xeroderma pigmentosum, group C, Xeroderma pigmentosum |
| RS752030576 | Health Risk | Pathogenic | Xeroderma pigmentosum, group C, Xeroderma pigmentosum |
| RS752088918 | Health Risk | Pathogenic | Xeroderma pigmentosum, group C, Xeroderma pigmentosum |
| RS754532049 | Health Risk | Pathogenic | Xeroderma pigmentosum, group C, See cases |
| RS754673606 | Health Risk | Pathogenic | Xeroderma pigmentosum, group C, XPC-related disorder |
| RS754775337 | Health Risk | Pathogenic | Xeroderma pigmentosum, group C, Xeroderma pigmentosum |
| RS755825264 | Health Risk | Pathogenic | Xeroderma pigmentosum, group C, Xeroderma pigmentosum |
| RS757958943 | Health Risk | Pathogenic | Xeroderma pigmentosum, group C, Xeroderma pigmentosum |
| RS763678756 | Health Risk | Pathogenic | Xeroderma pigmentosum, group C, Xeroderma pigmentosum |
| RS764321665 | Health Risk | Pathogenic | Xeroderma pigmentosum, group C, Xeroderma pigmentosum |
| RS767569346 | Health Risk | Pathogenic | Xeroderma pigmentosum, group C, Xeroderma pigmentosum |
| RS768907247 | Health Risk | Pathogenic | — |
| RS786205206 | Health Risk | Pathogenic | Xeroderma pigmentosum, group C, Xeroderma pigmentosum |
| RS794729654 | Health Risk | Pathogenic | Xeroderma pigmentosum, group C, Xeroderma pigmentosum |
| RS794729656 | Health Risk | Pathogenic | Xeroderma pigmentosum, group C, Xeroderma pigmentosum |