XPA Chromosome 9

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

Upload your DNA to see your personal genotypes for variants in XPA.

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
RS104894131 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum group A, Xeroderma pigmentosum, Xeroderma pigmentosum group A
RS1339290732 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Ovarian cancer, Inborn genetic diseases
RS1384309620 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS144543144 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, XPA-related disorder, Xeroderma pigmentosum
RS144725456 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum group A, Xeroderma pigmentosum, Xeroderma pigmentosum group A
RS1477700804 Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Ovarian cancer
RS1805160 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum group A, Xeroderma pigmentosum, Xeroderma pigmentosum group A
RS373762653 Health Risk Conflicting classifications of pathogenicity XPA-related disorder, XPA-related disorder
RS562768588 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum group A, Ovarian serous cystadenocarcinoma, Xeroderma pigmentosum group A
RS746694561 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS779161471 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1019535182 Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1253496792 Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1324310300 Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum, Xeroderma pigmentosum group A
RS1326841833 Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1451780491 Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum, Xeroderma pigmentosum group A
RS1468099690 Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554701129 Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554701144 Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554701152 Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554701478 Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554701481 Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554701488 Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554701563 Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554701985 Health Risk Likely pathogenic —
RS1554702597 Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554702608 Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554702629 Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554703119 Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554703183 Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1564045331 Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS2131393093 Health Risk Likely pathogenic Xeroderma pigmentosum, Xeroderma pigmentosum
RS2131393431 Health Risk Likely pathogenic —
RS2490184373 Health Risk Likely pathogenic Xeroderma pigmentosum, Xeroderma pigmentosum
RS2490184698 Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS2490215392 Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS2490215519 Health Risk Likely pathogenic —
RS2490221202 Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS2490227153 Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS2490237527 Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS2490237760 Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS755803064 Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS781195170 Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS104894132 Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum, Xeroderma pigmentosum group A
RS104894133 Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum, Xeroderma pigmentosum group A
RS104894134 Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1200172747 Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum, Xeroderma pigmentosum group A
RS1383912514 Health Risk Pathogenic —
RS138536873 Health Risk Pathogenic —
RS1405271436 Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
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