Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.L4105F
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RYR2

NM_001035.3:p.L4105F

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

A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.

Austin R et al.

Genetics in Medicine Open, 2024

39669597 (PubMed )
Supplement: mmc2.xlsx › Supp_tab_6

Molecular Dynamics Simulations of the Cardiac Ryanodine Receptor Type 2 (RyR2) Gating Mechanism.

Greene D et al.

The Journal of Physical Chemistry. B, 2022

36384028 (PubMed )
Supplement: jp2c03031_si_001.pdf

"Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?

Sleiman Y et al.

Cell Death & Disease, 2021

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

The Role of Flecainide in the Management of Catecholaminergic Polymorphic Ventricular Tachycardia.

Lieve KV et al.

Arrhythmia & Electrophysiology Review, 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

Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan.

Kawamura M et al.

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

Inhibition of cardiac Ca2+ release channels (RyR2) determines efficacy of class I antiarrhythmic drugs in catecholaminergic polymorphic ventricular tachycardia.

Hwang HS et al.

Circulation. Arrhythmia and Electrophysiology, 2011

The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis.

Medeiros-Domingo A et al.

Journal of the American College of Cardiology, 2009

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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."