rs10420685
This is a synonymous variant in the ITPKC gene — it does not change the protein's amino acid sequence.
▶Research that mentions this SNP (1)
▶Genetic polymorphisms in the ITPKC gene and cervical squamous cell carcinoma riskAssociationN=1,265Yuh-Cheng Yang et al.(2012)· Cancer Immunology, Immunotherapy
A hospital-based case-control study of 465 cervical squamous cell carcinoma (CSCC) patients and 800 healthy controls in Taiwan found that the G/G genotype and G allele of ITPKC rs28493229 (C/G) are significantly associated with increased CSCC risk (OR = 1.81, 95% CI 1.20-2.73; OR = 1.70, 95% CI 1.14-2.54), while the C/G genotype and C allele are protective. The CGTA haplotype of ITPKC SNPs was associated with reduced CSCC risk (OR = 0.59, 95% CI 0.40-0.89).
About ITPKC
This gene encodes a member of the inositol 1,4,5-trisphosphate [Ins(1,4,5)P(3)] 3-kinase family of enzymes that catalyze the phosphorylation of inositol 1,4,5-trisphosphate to 1,3,4,5-tetrakisphosphate. The encoded protein is localized to the nucleus and cytoplasm and has both nuclear import and nuclear export activity. Single nucleotide polymorphisms in this gene are associated with Kawasaki disease.[provided by RefSeq, Sep 2009]
View all ITPKC variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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