Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.V4821I
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RYR2

NM_001035.3:p.V4821I

Associated Papers

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

Dual role of the S5 segment in type 1 ryanodine receptor channel gating.

Murayama T et al.

Communications Biology, 2024

Clinical and genetic characteristics of catecholaminergic polymorphic ventricular tachycardia combined with left ventricular non-compaction.

Xu B et al.

Cardiology in the Young, 2024

Impact of cascade screening for catecholaminergic polymorphic ventricular tachycardia type 1.

Shimamoto K et al.

Heart (british Cardiac Society), 2022

35135837 (PubMed )
Supplement: heartjnl-2021-320220supp001.pdf

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Associated With Ryanodine Receptor (RyR2) Gene Mutations - Long-Term Prognosis After Initiation of Medical Treatment.

Kawata H et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2016

New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia.

Jabbari J et al.

Circulation. Cardiovascular Genetics, 2013

24025405 (PubMed )
Supplement: 000118_supplemental_material.pdf

Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives.

van der Werf C et al.

Circulation. Arrhythmia and Electrophysiology, 2012

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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."