Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.R376C
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SCN5A

NM_000335.5:p.R376C

Associated Papers

An Adolescent Patient with Sick Sinus Syndrome Complicated by Hypothyroidism Carrying an SCN5A Variant.

Yamane H et al.

International Heart Journal, 2022

Yield and clinical significance of genetic screening in elite and amateur athletes.

Limongelli G et al.

European Journal of Preventive Cardiology, 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

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

Dysfunctional Nav1.5 channels due to SCN5A mutations.

Han D et al.

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

Long QT Syndrome and Sinus Bradycardia-A Mini Review.

Wilders R et al.

Frontiers in Cardiovascular Medicine, 2018

Genetic Determinants of Hereditary Bradyarrhythmias: A Contemporary Review of a Diverse Group of Disorders.

Rezazadeh S et al.

The Canadian Journal of Cardiology, 2017

The genetic basis for inherited forms of sinoatrial dysfunction and atrioventricular node dysfunction.

Milanesi R et al.

Journal of Interventional Cardiac Electrophysiology : an International Journal of Arrhythmias and Pacing, 2015

Genetic analysis in a family affected by sick sinus syndrome may reduce the sudden death risk in a young aspiring competitive athlete.

Detta N et al.

International Journal of Cardiology, 2014

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

The SCN5A gene in Brugada syndrome: mutations, variants, missense and nonsense. What's a clinician to do?

Skinner JR 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."