Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.R568H
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SCN5A

NM_000335.5:p.R568H

Associated Papers

Biophysical mechanisms of myocardium sodium channelopathies.

Zaytseva AK et al.

Pflugers Archiv : European Journal of Physiology, 2024

Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Halford JL et al.

Nature Communications, 2022

36042188 (PubMed )
Supplement: 41467_2022_32009_MOESM4_ESM.xlsx › Supplementary_Data_1

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 › S4

Dysfunctional Nav1.5 channels due to SCN5A mutations.

Han D et al.

Experimental Biology and Medicine (maywood, N.j.), 2018

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

Chadda KR et al.

Pflugers Archiv : European Journal of Physiology, 2017

Electrophysiological characterization of a large set of novel variants in the SCN5A-gene: identification of novel LQTS3 and BrS mutations.

Ortiz-Bonnin B et al.

Pflugers Archiv : European Journal of Physiology, 2016

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

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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."