rs1044129

This is a downstream gene variant variant in the RYR3 gene.

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ClinVar annotation

Benign★☆☆☆
2 submitters2 publications

Epileptic encephalopathy

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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 RYR3

The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium from the sarcoplasmic reticulum followed by depolarization of T-tubules. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

View all RYR3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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