Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.W1192*
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SCN5A

NM_198056.3:p.W1192*

Associated Papers

Biophysical mechanisms of myocardium sodium channelopathies.

Zaytseva AK et al.

Pflugers Archiv : European Journal of Physiology, 2024

Genetic Contribution to End-Stage Cardiomyopathy Requiring Heart Transplantation.

Kim Y et al.

Circulation. Genomic and Precision Medicine, 2023

37767697 (PubMed )
Supplement: hcg-16-452-s001.pdf

Ventricular fibrillation in Graves disease reveals a rare SCN5A mutation with W1191X variant associated with Brugada syndrome.

Stawiarski K et al.

Heartrhythm Case Reports, 2021

Experimental Models of Brugada syndrome.

Sendfeld F et al.

International Journal of Molecular Sciences, 2019

31032819 (PubMed )
Supplement: ijms-20-02123-s001.pdf

1 in 38 individuals at risk of a dominant medically actionable disease.

Haer-Wigman L et al.

European Journal of Human Genetics : Ejhg, 2019

p.Y1449C SCN5A mutation associated with overlap disorder comprising conduction disease, Brugada syndrome, and atrial flutter.

Hothi SS et al.

Journal of Cardiovascular Electrophysiology, 2015

SCN5A mutations associated with overlap phenotype of long QT syndrome type 3 and Brugada syndrome.

Nakaya H

Circulation Journal : Official Journal of the Japanese Circulation Society, 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

Phenotypic overlap of cardiac sodium channelopathies: individual-specific or mutation-specific?

Makita N

Circulation Journal : Official Journal of the Japanese Circulation Society, 2009

Cardiac sodium channel overlap syndromes: different faces of SCN5A mutations.

Remme CA et al.

Trends in Cardiovascular Medicine, 2008

A novel mutation in the SCN5A gene is associated with Brugada syndrome.

Shin DJ et al.

Life Sciences, 2007

SCN5A channelopathies--an update on mutations and mechanisms.

Zimmer T et al.

Progress in Biophysics and Molecular Biology, 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."