Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.M4504I
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RYR2

NM_001035.3:p.M4504I

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

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

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

Sleiman Y et al.

Cell Death & Disease, 2021

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

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

Follow-up with exercise test of effort-induced ventricular arrhythmias linked to ryanodine receptor type 2 gene mutations.

Steriotis AK et al.

The American Journal of Cardiology, 2012

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

Sudden unexplained death caused by cardiac ryanodine receptor (RyR2) mutations.

Wehrens XH et al.

Mayo Clinic Proceedings, 2004

Denaturing HPLC-based approach for detecting RYR2 mutations involved in malignant arrhythmias.

Bagattin A et al.

Clinical Chemistry, 2004

Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias.

Veronese C et al.

Human Genetics, 2004

Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias.

Veronese C et al.

Human Genetics, 2004

Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias.

Bagattin A et al.

Human Genetics, 2004

Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias.

Bagattin A et al.

Human Genetics, 2004

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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."