rs1042538
This is a 3 prime utr variant variant in the IQGAP1 gene.
▶Research that mentions this SNP (1)
▶Association of a functional polymorphism in the 3′-untranslated region of SPI1 with systemic lupus erythematosusFunctionalKoki Hikami et al.(2011)· Arthritis & Rheumatism
This computational study developed a novel algorithm to analyze how genetic variants (SNPs and indels) in microRNA binding sites affect miRNA target regulation. The authors analyzed 2,006,524 genetic variants in 3'UTRs from 2,016 genes and 677 validated miRNA-mRNA pairs, identifying 37,999 variants (2%) that could create, disrupt, or modify miRNA target sites. The findings confirm previously reported cancer-associated variants (e.g., rs2239680 increasing lung cancer risk, rs1042538 linked to breast cancer) and identify numerous novel variants potentially worthy of investigation for disease associations.
About IQGAP1
This gene encodes a member of the IQGAP family. The protein contains four IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. It interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. Expression of the protein is upregulated by gene amplification in two gastric cancer cell lines. [provided by RefSeq, Jul 2008]
View all IQGAP1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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