Varaico: Literature-Extracted Genetic Variants

Gene:RYR2
Variant:p.L4115F
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RYR2

NM_001035.3:p.L4115F

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

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

Luo S et al.

Asian Heart Journal, 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

Experimental Models of Hypertrophic Cardiomyopathy: A Systematic Review.

van den Dolder FW et al.

Jacc. Basic to Translational Science, 2025

40306862 (PubMed )
Supplement: mmc2.xlsx › Data_extraction

Catecholaminergic Polymorphic Ventricular Tachycardia: Advancing From Molecular Insights to Preclinical Models.

Schneider L et al.

Journal of the American Heart Association, 2025

The Role of RyR2 Mutations in Congenital Heart Diseases: Insights Into Cardiac Electrophysiological Mechanisms.

Lv T et al.

Journal of Cardiovascular Electrophysiology, 2025

The Role of Human-Induced Pluripotent Stem Cells in Studying Cardiac Channelopathies.

Begovic M et al.

International Journal of Molecular Sciences, 2024

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

Sleiman Y et al.

Cell Death & Disease, 2021

Calcium signaling consequences of RyR2 mutations associated with CPVT1 introduced via CRISPR/Cas9 gene editing in human-induced pluripotent stem cell-derived cardiomyocytes: Comparison of RyR2-R420Q, F2483I, and Q4201R.

Zhang XH et al.

Heart Rhythm, 2021

Drug Development and the Use of Induced Pluripotent Stem Cell-Derived Cardiomyocytes for Disease Modeling and Drug Toxicity Screening.

Ovics P et al.

International Journal of Molecular Sciences, 2020

Mutation-specific differences in arrhythmias and drug responses in CPVT patients: simultaneous patch clamp and video imaging of iPSC derived cardiomyocytes.

Pölönen RP et al.

Molecular Biology Reports, 2020

Antiarrhythmic Effects of Carvedilol and Flecainide in Cardiomyocytes Derived from Catecholaminergic Polymorphic Ventricular Tachycardia Patients.

Pölönen RP et al.

Stem Cells International, 2018

Calcium signaling in human stem cell-derived cardiomyocytes: Evidence from normal subjects and CPVT afflicted patients.

Zhang XH et al.

Cell Calcium, 2016

Antiarrhythmic Effects of Dantrolene in Patients with Catecholaminergic Polymorphic Ventricular Tachycardia and Replication of the Responses Using iPSC Models.

Penttinen K et al.

Plos One, 2015

Novel Analysis Software for Detecting and Classifying Ca2+ Transient Abnormalities in Stem Cell-Derived Cardiomyocytes.

Penttinen K et al.

Plos One, 2015

Intravenous epinephrine infusion test in diagnosis of catecholaminergic polymorphic ventricular tachycardia.

Marjamaa A et al.

Journal of Cardiovascular Electrophysiology, 2012

The link between abnormalities of calcium handling proteins and catecholaminergic polymorphic ventricular tachycardia.

Lin DJ et al.

Tzu Chi Medical Journal, 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."