Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.L409P
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SCN5A

NM_000335.5:p.L409P

Associated Papers

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

Reengineering an Antiarrhythmic Drug Using Patient hiPSC Cardiomyocytes to Improve Therapeutic Potential and Reduce Toxicity.

McKeithan WL et al.

Cell Stem Cell, 2020

Heritable arrhythmia syndromes associated with abnormal cardiac sodium channel function: ionic and non-ionic mechanisms.

Rivaud MR et al.

Cardiovascular Research, 2020

Complex and Novel Arrhythmias Precede Stillbirth in Fetuses With De Novo Long QT Syndrome.

Strand S et al.

Circulation. Arrhythmia and Electrophysiology, 2020

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

Brewer KR et al.

Frontiers in Pharmacology, 2020

Switch From Fetal to Adult SCN5A Isoform in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes Unmasks the Cellular Phenotype of a Conduction Disease-Causing Mutation.

Veerman CC et al.

Journal of the American Heart Association, 2017

Sodium channel biophysics, late sodium current and genetic arrhythmic syndromes.

Chadda KR et al.

Pflugers Archiv : European Journal of Physiology, 2017

The beginnings of long QT syndrome.

Cuneo BF

Current Opinion in Cardiology, 2015

In utero diagnosis of long QT syndrome by magnetocardiography.

Cuneo BF et al.

Circulation, 2013

Arrhythmia phenotype during fetal life suggests long-QT syndrome genotype: risk stratification of perinatal long-QT syndrome.

Cuneo BF et al.

Circulation. Arrhythmia and Electrophysiology, 2013

Fetal heart rate predictors of long QT syndrome.

Mitchell JL et al.

Circulation, 2012

Developmentally regulated SCN5A splice variant potentiates dysfunction of a novel mutation associated with severe fetal arrhythmia.

Murphy LL et al.

Heart Rhythm, 2012

Enhanced impact of SCN5A mutation associated with long QT syndrome in fetal splice isoform.

Wang T et al.

Heart Rhythm, 2012

The congenital long QT syndrome Type 3: An update.

Pérez-Riera AR et al.

Indian Pacing and Electrophysiology 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."