rs3212980
This is a downstream gene variant variant in the ERCC1 gene.
▶Research that mentions this SNP (1)
▶Hapmap‐based evaluation of ERCC2, PPP1R13L, and ERCC1 and lung cancer risk in a Chinese populationAssociationN=697Jiaoyang Yin et al.(2012)· Environmental and Molecular Mutagenesis
A case-control study of 339 Chinese lung cancer cases and 358 controls evaluated haplotype-tagging SNPs in ERCC2, PPP1R13L, and ERCC1 on chromosome 19q13.3 for association with lung cancer risk. Haplotype analysis revealed significant differential distributions in the region covering ERCC2 and PPP1R13L (P = 8.12e-005) and extending to ERCC1 (P = 4.82e-006). The Block1Hap-2 haplotype CGCC in ERCC2 was associated with increased lung cancer risk (OR 1.26, P = 0.02), while one PPP1R13L htSNP (rs2070830) showed marginal association (OR 1.47, P = 0.04) but was excluded due to Hardy-Weinberg deviation.
About ERCC1
The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq, Oct 2009]
View all ERCC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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