Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.H2464D
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RYR2

NM_001035.3:p.H2464D

Associated Papers

Loss-of-Function Mutation RyR2-A4860G Confers an Arrhythmia Phenotype in Mice Inconsistent With Calcium Release Deficiency Syndrome.

Pattridge HK et al.

Circulation. Arrhythmia and Electrophysiology, 2026

Catecholaminergic polymorphic ventricular tachycardia: A narrative review of recent advances in genetics, mechanisms, diagnosis, and treatment.

Luo S et al.

Asian Heart Journal, 2025

Gain-of-Function and Loss-of-Function Mutations in the RyR2-Expressing Gene Are Responsible for the CPVT1-Related Arrhythmogenic Activities in the Heart.

Paudel R et al.

Current Issues in Molecular Biology, 2024

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

Mazzanti A et al.

Jama Cardiology, 2022

Identifying Features of Cardiac Disease Phenotypes Based on Mechanical Function in a Catecholaminergic Polymorphic Ventricular Tachycardia Model.

Stempien A et al.

Frontiers in Bioengineering and Biotechnology, 2022

Catecholaminergic polymorphic ventricular tachycardia patients with multiple genetic variants in the PACES CPVT Registry.

Roston TM et al.

Plos One, 2018

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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."