rs76906202
This is a intron variant variant in the MAP2K1 gene.
▶Research that mentions this SNP (1)
▶Genetic variants in Ras/Raf/MEK/ERK pathway are associated with gastric cancer risk in Chinese Han populationAssociationN=3,725Xiaowei Wang et al.(2020)· Archives of Toxicology
Pathway-based GWAS in 1625 Chinese Han gastric cancer cases and 2100 controls identified three SNPs in MAP2K1 significantly associated with gastric cancer risk: rs4287513 (OR=1.30, P=1.92×10⁻³), rs76906202 (OR=0.87, P=3.72×10⁻³, protective), and rs11631448 (OR=1.21, P=6.74×10⁻³). eQTL analysis confirmed these variants regulate MAP2K1 expression, and low MAP2K1 expression was associated with poor survival in gastric cancer patients.
About MAP2K1
The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development. [provided by RefSeq, Jul 2008]
View all MAP2K1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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