Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.N4178S
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RYR2

NM_001035.3:p.N4178S

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

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

Treatment Outcomes in Children With Catecholaminergic Polymorphic Ventricular Tachycardia: A Single Institutional Experience.

Lee J et al.

Korean Circulation Journal, 2024

Location of ryanodine receptor type 2 mutation predicts age of onset of sudden death in catecholaminergic polymorphic ventricular tachycardia - A systematic review and meta-analysis of case-based literature.

Beqaj H et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Clinical characteristics and follow-up of complex arrhythmias associated with RYR2 gene mutations in children.

Wang Y et al.

Frontiers in Genetics, 2024

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

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

Mazzanti A et al.

Jama Cardiology, 2022

Correction: Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients.

Ohno S et al.

Plos One, 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

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

Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients.

Ohno S 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

Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan.

Kawamura M et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 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

Long-term clinical course of patients with catecholaminergic polymorphic ventricular tachycardia: A more than 10-year follow-up cohort study.

Kulbachinskaya E et al.

Annals of Pediatric Cardiology, 0

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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."