Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.K817E
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SCN5A

NM_000335.5:p.K817E

Associated Papers

Biophysical mechanisms of myocardium sodium channelopathies.

Zaytseva AK et al.

Pflugers Archiv : European Journal of Physiology, 2024

Genetic and Molecular Mechanisms in Brugada Syndrome.

Moras E et al.

Cells, 2023

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

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 › S3

Experimental Models of Brugada syndrome.

Sendfeld F et al.

International Journal of Molecular Sciences, 2019

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

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

SCN5A Variants: Association With Cardiac Disorders.

Li W et al.

Frontiers in Physiology, 2018

SCN5A(K817E), a novel Brugada syndrome-associated mutation that alters the activation gating of NaV1.5 channel.

Kinoshita K et al.

Heart Rhythm, 2016

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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."