rs6869366
This is a upstream gene variant variant in the XRCC4 gene.
▶Research that mentions this SNP (1)
▶Genetic variants of the nonhomologous end joining gene LIG4 and severe radiation pneumonitis in nonsmall cell lung cancer patients treated with definitive radiotherapyAssociationN=195Ming Yin et al.(2012)· Cancer
This candidate gene association study examined 5 SNPs in non-homologous end joining (NHEJ) pathway genes in 195 NSCLC patients treated with definitive radiotherapy, finding that LIG4 rs1805388 (T9I) was significantly associated with severe radiation pneumonitis (HR=2.08, 95% CI 1.04-4.12, P=0.037). Additionally, XRCC4 rs6869366 and XRCC5 rs3835 showed sex-specific associations with severe radiation pneumonitis risk.
About XRCC4
The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand breaks. This protein plays a role in both non-homologous end joining and the completion of V(D)J recombination. Mutations in this gene can cause short stature, microcephaly, and endocrine dysfunction (SSMED). Alternate transcript variants such as NM_022406 are unlikely to be expressed in some individuals due to a polymorphism (rs1805377) in the last splice acceptor site. [provided by RefSeq, Oct 2019]
View all XRCC4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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