Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.L846R
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SCN5A

NM_000335.5:p.L846R

Associated Papers

Predicting functional effects of ion channel variants using new phenotypic machine learning methods.

Boßelmann CM et al.

Plos Computational Biology, 2023

36877742 (PubMed )
Supplement: pcbi.1010959.s004.pdf

Structural Heart Alterations in Brugada Syndrome: Is it Really a Channelopathy? A Systematic Review.

Oliva A et al.

Journal of Clinical Medicine, 2022

Prevalence and electrophysiological phenotype of rare SCN5A genetic variants identified in unexplained sudden cardiac arrest survivors.

Giudicessi JR 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, 2020

Predicting changes to INa from missense mutations in human SCN5A.

Clerx M et al.

Scientific Reports, 2018

30143662 (PubMed )
Supplement: 41598_2018_30577_MOESM1_ESM.pdf

Genotype-Phenotype Correlation of SCN5A Mutation for the Clinical and Electrocardiographic Characteristics of Probands With Brugada Syndrome: A Japanese Multicenter Registry.

Yamagata K et al.

Circulation, 2017

Fibrosis, Connexin-43, and Conduction Abnormalities in the Brugada Syndrome.

Nademanee K et al.

Journal of the American College of Cardiology, 2015

Age, Genetics, and Fibrosis in the Brugada Syndrome.

Campuzano O et al.

Journal of the American College of Cardiology, 2015

Electrocardiographic characteristics and SCN5A mutations in idiopathic ventricular fibrillation associated with early repolarization.

Watanabe H et al.

Circulation. Arrhythmia and Electrophysiology, 2011

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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."