rs2228128

This variant is located in the POLR2A gene.

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ClinVar annotation

Benign★★★☆
3 submitters1 publication

not provided; POLR2A-related disorder

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Research that mentions this SNP (1)

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Association analysis of genetic variants in microRNA networks and gastric cancer risk in a Chinese Han population
AssociationN=736Yuan Zhou et al.(2012)· Journal of Cancer Research and Clinical Oncology

Hospital-based case-control study in a Chinese Han population investigating SNPs in microRNA network genes and gastric cancer risk. The study genotyped 19 SNPs in 311 cases and 425 controls, identifying two significant associations: rs2071504 in POLR2A (OR=0.742, p=0.033) and rs895819 in miR-27a (OR=0.771, p=0.037), both showing protective effects against gastric cancer. The rs2071504 variant was additionally associated with lymph node metastasis (p=0.021) and TNM stage (p=0.021).

Traits studied:Depth of invasionGastric cancerHistologic subtypeLymph node metastasisTNM stageTumor locationTumor size
PubMedDOIMetascience Observatory

About POLR2A

This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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