Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.A2394G
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RYR2

NM_001035.3:p.A2394G

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 › patients_per_variant

RYR2 receptor gene mutation associated with catecholaminergic polymorphic ventricular tachycardia in children: a case report & literature review.

Abdullah NM et al.

Translational Pediatrics, 2024

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

Sleiman Y et al.

Cell Death & Disease, 2021

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

Global DNA methylation and transcriptional analyses of human ESC-derived cardiomyocytes.

Gu Y et al.

Protein & Cell, 2013

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

Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients.

Postma AV et al.

Journal of Medical Genetics, 2005

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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."