Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.A4091V
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RYR2

NM_001035.3:p.A4091V

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

Genetic and clinical characteristics of catecholaminergic polymorphic ventricular tachycardia in a Taiwanese nationwide cohort.

Hsu GC et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2025

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

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

Xu B et al.

Cardiology in the Young, 2024

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

Outcomes of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia Treated With β-Blockers.

Mazzanti A et al.

Jama Cardiology, 2022

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

Sleiman Y et al.

Cell Death & Disease, 2021

Structural Abnormalities on Cardiac Magnetic Resonance Imaging in Patients With Catecholaminergic Polymorphic Ventricular Tachycardia.

Gerber DA et al.

Jacc. Clinical Electrophysiology, 2020

Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation.

Kapplinger JD et al.

Circulation. Genomic and Precision Medicine, 2018

Patient Outcomes From a Specialized Inherited Arrhythmia Clinic.

Adler A et al.

Circulation. Arrhythmia and Electrophysiology, 2016

26743238 (PubMed )
Supplement: circae_circae-2015-003440-t_supp1.pdf

Catecholaminergic Polymorphic Ventricular Tachycardia with QT Prolongation.

Tanaka Y et al.

Pacing and Clinical Electrophysiology : Pace, 2015

Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes.

Shigemizu D et al.

Plos One, 2015

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
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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."