XPA Chromosome 9

XPA, DNA damage recognition and repair factor
106 variants 106 Health Risk

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What This Gene Does
This gene encodes a zinc finger protein plays a central role in nucleotide excision repair (NER), a specialized type of DNA repair. NER is responsible for repair of UV radiation-induced photoproducts and DNA adducts induced by chemical carcinogens and chemotherapeutic drugs. The encoded protein interacts with DNA and several NER proteins, acting as a scaffold to assemble the NER incision complex at sites of DNA damage. Mutations in this gene cause Xeroderma pigmentosum complementation group A (XP-A), an autosomal recessive skin disorder featuring hypersensitivity to sunlight and increased risk for skin cancer. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
Xeroderma pigmentosum complementation groups
Locus Type
gene with protein product
Location
9q22.33
Ensembl
ENSG00000136936
Associated Conditions (9)
Xeroderma pigmentosum group A
Xeroderma pigmentosum
Inborn genetic diseases
Ovarian cancer
XPA-related disorder
Ovarian serous cystadenocarcinoma
Thyroid cancer
nonmedullary
1
Key Variants
RS104894131
Conflicting classifications of pathogenicity
Xeroderma pigmentosum group A, Xeroderma pigmentosum, Xeroderma pigmentosum group A
Health Risk
RS1339290732
Conflicting classifications of pathogenicity
Inborn genetic diseases, Ovarian cancer, Inborn genetic diseases
Health Risk
RS1384309620
Conflicting classifications of pathogenicity
Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
Health Risk
RS144543144
Conflicting classifications of pathogenicity
Xeroderma pigmentosum, XPA-related disorder, Xeroderma pigmentosum
Health Risk
RS144725456
Conflicting classifications of pathogenicity
Xeroderma pigmentosum group A, Xeroderma pigmentosum, Xeroderma pigmentosum group A
Health Risk
RS1477700804
Conflicting classifications of pathogenicity
Ovarian cancer, Ovarian cancer
Health Risk
RS1805160
Conflicting classifications of pathogenicity
Xeroderma pigmentosum group A, Xeroderma pigmentosum, Xeroderma pigmentosum group A
Health Risk
RS373762653
Conflicting classifications of pathogenicity
XPA-related disorder, XPA-related disorder
Health Risk
RS562768588
Conflicting classifications of pathogenicity
Xeroderma pigmentosum group A, Ovarian serous cystadenocarcinoma, Xeroderma pigmentosum group A
Health Risk
RS746694561
Conflicting classifications of pathogenicity
Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
Health Risk
RS779161471
Conflicting classifications of pathogenicity
Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
Health Risk
RS1019535182
Likely pathogenic
Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
Health Risk
All Variants (106)
RSID Category Clinical Significance Conditions
RS1554699296 Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554699334 Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554701139 Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554701520 Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554701532 Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554701931 Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554701945 Health Risk Pathogenic —
RS1587744218 Health Risk Pathogenic —
RS1587755557 Health Risk Pathogenic Xeroderma pigmentosum group A, Thyroid cancer, nonmedullary
RS1828741490 Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1828745258 Health Risk Pathogenic —
RS1828818571 Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS2131379218 Health Risk Pathogenic Xeroderma pigmentosum, Xeroderma pigmentosum group A, Xeroderma pigmentosum
RS2131396482 Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS2131405964 Health Risk Pathogenic —
RS2131411372 Health Risk Pathogenic —
RS2131411756 Health Risk Pathogenic —
RS2490184604 Health Risk Pathogenic —
RS2490184877 Health Risk Pathogenic —
RS2490184995 Health Risk Pathogenic —
RS2490185067 Health Risk Pathogenic —
RS2490221098 Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS2490221130 Health Risk Pathogenic —
RS2490221510 Health Risk Pathogenic —
RS2490221605 Health Risk Pathogenic —
RS2490227298 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2490237785 Health Risk Pathogenic —
RS2490246360 Health Risk Pathogenic —
RS2490246666 Health Risk Pathogenic —
RS2490246841 Health Risk Pathogenic —
RS2490246990 Health Risk Pathogenic —
RS2490247599 Health Risk Pathogenic —
RS748286715 Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS750218942 Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum, Xeroderma pigmentosum group A
RS756967163 Health Risk Pathogenic Xeroderma pigmentosum, Inborn genetic diseases, Xeroderma pigmentosum group A
RS759052378 Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS765361885 Health Risk Pathogenic —
RS769255883 Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum, Xeroderma pigmentosum group A
RS773683921 Health Risk Pathogenic —
RS786205205 Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1057519018 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum, Xeroderma pigmentosum group A
RS1240801740 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1489386089 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS149226993 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum, Xeroderma pigmentosum group A
RS1554701103 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum, Xeroderma pigmentosum group A
RS1554701540 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum, Xeroderma pigmentosum group A
RS2490237534 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum, Xeroderma pigmentosum group A
RS746617574 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum, XPA-related disorder
RS746824252 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS752573039 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
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