Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.Q270K
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SCN5A

NM_000335.5:p.Q270K

Associated Papers

Biophysical mechanisms of myocardium sodium channelopathies.

Zaytseva AK et al.

Pflugers Archiv : European Journal of Physiology, 2024

Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brunklaus A et al.

Brain : a Journal of Neurology, 2022

35037686 (PubMed )
Supplement: awac006_Supplementary_Data.pdf

Experimental Models of Brugada syndrome.

Sendfeld F et al.

International Journal of Molecular Sciences, 2019

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

Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.

Loussouarn G et al.

Frontiers in Pharmacology, 2015

Loss-of-function sodium channel mutations in infancy: a pattern unfolds.

Chockalingam P et al.

Circulation, 2012

Brugada-like syndrome in infancy presenting with rapid ventricular tachycardia and intraventricular conduction delay.

Kanter RJ et al.

Circulation, 2012

Multiple arrhythmic syndromes in a newborn, owing to a novel mutation in SCN5A.

Calloe K et al.

Canadian Journal of Physiology and Pharmacology, 2011

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."