Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.T4196A
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RYR2

NM_001035.3:p.T4196A

Associated Papers

Catecholaminergic Polymorphic Ventricular Tachycardia and Gene Therapy: A Comprehensive Review of the Literature.

Henriquez E et al.

Cureus, 2023

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

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

Shimamoto K et al.

Heart (british Cardiac Society), 2022

Monogenic basis of young-onset cryptogenic stroke: a multicenter study.

Yuan WZ et al.

Annals of Translational Medicine, 2022

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

Sleiman Y et al.

Cell Death & Disease, 2021

The central domain of cardiac ryanodine receptor governs channel activation, regulation, and stability.

Guo W et al.

The Journal of Biological Chemistry, 2020

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

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

Diseases associated with altered ryanodine receptor activity.

Durham WJ et al.

Sub-cellular Biochemistry, 2007

Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing.

Tester DJ et al.

Heart Rhythm, 2006

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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."