rs60268947
This variant is located in the RPTOR gene.
▶Research that mentions this SNP (1)
▶Genetic variants in the liver kinase B1‐AMP‐activated protein kinase pathway genes and pancreatic cancer riskMeta-analysisN=15,418Xinyuan Xu et al.(2019)· Molecular Carcinogenesis
Meta-analysis of genetic variants in LKB1-AMPK pathway genes identifies six novel SNPs associated with pancreatic cancer risk in 15,418 European ancestry participants from PanScan and PanC4 cohorts. The study found that MAP2 rs35075084 (T>deletion), PRKAG2 rs2727572 (C>T) and rs34852782 (A>deletion), TP53 rs9895829 (A>G), and RPTOR rs62068300 (G>A) and rs3751936 (G>C) were significantly associated with increased pancreatic cancer risk (OR=1.24, 95% CI=1.16-1.32 for carriers with 5-6 unfavorable genotypes, P<0.0001). Expression quantitative trait loci analysis revealed these variants influence mRNA expression levels of their corresponding genes.
About RPTOR
This gene encodes a component of a signaling pathway that regulates cell growth in response to nutrient and insulin levels. The encoded protein forms a stoichiometric complex with the mTOR kinase, and also associates with eukaryotic initiation factor 4E-binding protein-1 and ribosomal protein S6 kinase. The protein positively regulates the downstream effector ribosomal protein S6 kinase, and negatively regulates the mTOR kinase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
View all RPTOR variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…