Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.R1027Q
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SCN5A

NM_000335.5:p.R1027Q

Associated Papers

Predicting changes to INa from missense mutations in human SCN5A.

Clerx M et al.

Scientific Reports, 2018

Management of untreatable ventricular arrhythmias during pharmacologic challenges with sodium channel blockers for suspected Brugada syndrome.

Poli S 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, 2018

Nadolol block of Nav1.5 does not explain its efficacy in the long QT syndrome.

Besana A et al.

Journal of Cardiovascular Pharmacology, 2012

Cardiac sodium channel dysfunction in sudden infant death syndrome.

Wang DW et al.

Circulation, 2007

Partial expression defect for the SCN5A missense mutation G1406R depends on splice variant background Q1077 and rescue by mexiletine.

Tan BH et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2006

Tetrodotoxin-resistant Na+ channels in human neuroblastoma cells are encoded by new variants of Nav1.5/SCN5A.

Ou SW et al.

The European Journal of Neuroscience, 2005

A ubiquitous splice variant and a common polymorphism affect heterologous expression of recombinant human SCN5A heart sodium channels.

Makielski JC et al.

Circulation Research, 2003

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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."