Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.I3995V
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RYR2

NM_001035.3:p.I3995V

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 › patient_variants

Structural Evaluation of RYR2-CPVT Missense Variants and Continuous Bayesian Estimates of their Penetrance.

Yamauchi K et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Molecular, Subcellular, and Arrhythmogenic Mechanisms in Genetic RyR2 Disease.

Fowler ED et al.

Biomolecules, 2022

Identification of loss-of-function RyR2 mutations associated with idiopathic ventricular fibrillation and sudden death.

Zhong X et al.

Bioscience Reports, 2021

Cardiac ryanodine receptor calcium release deficiency syndrome.

Sun B et al.

Science Translational Medicine, 2021

Nationwide experience of catecholaminergic polymorphic ventricular tachycardia caused by RyR2 mutations.

Broendberg AK et al.

Heart (british Cardiac Society), 2017

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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."