Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.E2314K
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RYR2

NM_001035.3:p.E2314K

Associated Papers

Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.

Brünger T et al.

Genome Biology, 2025

40624578 (PubMed )
Supplement: 13059_2025_3663_MOESM2_ESM.xlsx › SupplementaryTable1

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

Pejaver V et al.

American Journal of Human Genetics, 2022

36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2

Chronotropic incompetence as a risk predictor in children and young adults with catecholaminergic polymorphic ventricular tachycardia.

Franciosi S et al.

Journal of Cardiovascular Electrophysiology, 2019

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