rs375859472
This variant is located in the XPC gene.
▶ClinVar annotation
not specified; Xeroderma pigmentosum, group C; Inborn genetic diseases
View on ClinVar →About XPC
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]
View all XPC variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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