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
RS757098056 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS761978351 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS764582394 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS777372873 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum, Xeroderma pigmentosum group A
RS778543124 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS778804405 Health Risk Pathogenic/Likely pathogenic
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