Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.V240M
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SCN5A

NM_000335.5:p.V240M

Associated Papers

Biophysical mechanisms of myocardium sodium channelopathies.

Zaytseva AK et al.

Pflugers Archiv : European Journal of Physiology, 2024

Precision medicine for long QT syndrome: patient-specific iPSCs take the lead.

Yu Y et al.

Expert Reviews in Molecular Medicine, 2023

Deciphering Common Long QT Syndrome Using CRISPR/Cas9 in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Song Y et al.

Frontiers in Cardiovascular Medicine, 2022

Clinical Spectrum of SCN5A Channelopathy in Children with Primary Electrical Disease and Structurally Normal Hearts.

Villarreal-Molina T et al.

Genes, 2021

Induced Pluripotent Stem Cell-Derived Cardiomyocytes with SCN5A R1623Q Mutation Associated with Severe Long QT Syndrome in Fetuses and Neonates Recapitulates Pathophysiological Phenotypes.

Hayama E et al.

Biology, 2021

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32893267 (PubMed )
Supplement: 41436_2020_946_MOESM2_ESM.xlsx › S11

Applications for Induced Pluripotent Stem Cells in Disease Modelling and Drug Development for Heart Diseases.

Nakao S et al.

European Cardiology, 2020

Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Brewer KR et al.

Frontiers in Pharmacology, 2020

Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes.

Giacomelli E et al.

Cellular and Molecular Life Sciences : Cmls, 2017

Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome.

Le Scouarnec S et al.

Human Molecular Genetics, 2015

The disease-specific phenotype in cardiomyocytes derived from induced pluripotent stem cells of two long QT syndrome type 3 patients.

Fatima A et al.

Plos One, 2013

Facilitatory and inhibitory effects of SCN5A mutations on atrial fibrillation in Brugada syndrome.

Amin AS et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2011

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

Kapplinger JD et al.

Heart Rhythm, 2010

Exercise-induced ECG changes in Brugada syndrome.

Amin AS et al.

Circulation. Arrhythmia and Electrophysiology, 2009

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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."