Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.G584S
Back to variants list

SCN5A

NM_000335.5:p.G584S

Associated Papers

Mechanisms of fever-induced QT prolongation and torsades de pointes in patients with KCNH2 mutation.

Usuda K 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, 2023

37386841 (PubMed )
Supplement: euad161_supplementary_data.docx

Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.

Wang M et al.

Frontiers in Cardiovascular Medicine, 2022

36277779 (PubMed )
Supplement: Data_Sheet_1.pdf

Molecular Pathophysiology of Congenital Long QT Syndrome.

Bohnen MS et al.

Physiological Reviews, 2017

Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations.

Leong IU et al.

Bmc Medical Genetics, 2015

25967940 (PubMed )
Supplement: 12881_2015_176_MOESM1_ESM.xlsx › KCNH2_All

A new approach to long QT syndrome mutation detection by Sequenom MassARRAY system.

Allegue C et al.

Electrophoresis, 2010

Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.

Fodstad H et al.

Annals of Medicine, 2004

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."