Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.R2474G
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RYR2

NM_001035.3:p.R2474G

Associated Papers

Arrhythmic Risk and Clinical Features in Catecholaminergic Polymorphic Ventricular Tachycardia: Results From a Multicenter Study in Korea.

Cho MJ et al.

The American Journal of Cardiology, 2025

RYR2 Variants in Catecholaminergic Polymorphic Ventricular Tachycardia Patients: Insights From Protein Structure and Clinical Data.

Chang A et al.

Circulation. Arrhythmia and Electrophysiology, 2025

40875405 (PubMed )
Supplement: hae-18-e013757-s003.xlsx › patient_variants

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

Treatment Outcomes in Children With Catecholaminergic Polymorphic Ventricular Tachycardia: A Single Institutional Experience.

Lee J et al.

Korean Circulation Journal, 2024

Clinical Characteristics, Genetic Basis and Healthcare Resource Utilisation and Costs in Patients with Catecholaminergic Polymorphic Ventricular Tachycardia: A Retrospective Cohort Study.

Chung CT et al.

Reviews in Cardiovascular Medicine, 2022

Clinical Characteristics, Genetic Findings and Arrhythmic Outcomes of Patients with Catecholaminergic Polymorphic Ventricular Tachycardia from China: A Systematic Review.

Leung J et al.

Life (basel, Switzerland), 2022

Bradycardia Is a Specific Phenotype of Catecholaminergic Polymorphic Ventricular Tachycardia Induced by RYR2 Mutations.

Miyata K et al.

Internal Medicine (tokyo, Japan), 2018

29434162 (PubMed )
Supplement: 1349-7235-57-1813-s001.pdf

Clinical and genetic profile of catecholaminergic polymorphic ventricular tachycardia in Hong Kong Chinese children.

Yu TC et al.

Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2016

Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan.

Kawamura M et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2013

Abnormal Ca(2+) homeostasis, atrial arrhythmogenesis, and sinus node dysfunction in murine hearts modeling RyR2 modification.

Zhang Y et al.

Frontiers in Physiology, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."