Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.A165D
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RYR2

NM_001035.3:p.A165D

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

Disparate molecular mechanisms in cardiac ryanodine receptor channelopathies.

Zhang Y et al.

Frontiers in Molecular Biosciences, 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

TECRL deficiency results in aberrant mitochondrial function in cardiomyocytes.

Hou C et al.

Communications Biology, 2022

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

Sleiman Y et al.

Cell Death & Disease, 2021

Structure and Function of the Human Ryanodine Receptors and Their Association with Myopathies-Present State, Challenges, and Perspectives.

Bauerová-Hlinková V et al.

Molecules (basel, Switzerland), 2020

Pathogenic mechanism of a catecholaminergic polymorphic ventricular tachycardia causing-mutation in cardiac calcium release channel RyR2.

Xiong J et al.

Journal of Molecular and Cellular Cardiology, 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."