Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.N592K
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SCN5A

NM_000335.5:p.N592K

Associated Papers

Clinical presentation and outcomes of patients with biallelic SCN5A variants: A systematic review.

Surget E et al.

Heart Rhythm O2, 2025

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

Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Halford JL et al.

Nature Communications, 2022

36042188 (PubMed )
Supplement: 41467_2022_32009_MOESM4_ESM.xlsx › Supplementary_Data_1

Genetic Characteristics and Transcriptional Regulation of Sodium Channel Related Genes in Chinese Patients With Brugada Syndrome.

Zhang Z et al.

Frontiers in Cardiovascular Medicine, 2021

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

Unique clinical characteristics and SCN5A mutations in patients with Brugada syndrome in Taiwan.

Juang JM et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2015

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 › SCN5A_BrS

Utilizing multiple in silico analyses to identify putative causal SCN5A variants in Brugada syndrome.

Juang JM et al.

Scientific Reports, 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

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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."