Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.H681P
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SCN5A

NM_000335.5:p.H681P

Associated Papers

SCN5A missense variants and their contribution to deaths in Sudden Unexplained Nocturnal Death Syndrome (SUNDS).

Chaloemthanetphong A et al.

Forensic Science International. Genetics, 2025

Biophysical mechanisms of myocardium sodium channelopathies.

Zaytseva AK et al.

Pflugers Archiv : European Journal of Physiology, 2024

Long-term follow-up in patients with Brugada Syndrome in South China.

Zhao D et al.

Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2021

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 › S13

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

Identification of Novel SCN5A Single Nucleotide Variants in Brugada Syndrome: A Territory-Wide Study From Hong Kong.

Tse G et al.

Frontiers in Physiology, 2020

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

Triggers for arrhythmogenesis in the Brugada and long QT 3 syndromes.

Peters CH et al.

Progress in Biophysics and Molecular Biology, 2016

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

Allegue C et al.

Electrophoresis, 2010

Brugada syndrome: insights of ST elevation, arrhythmogenicity, and risk stratification from experimental observations.

Morita H et al.

Heart Rhythm, 2009

A novel SCN5A mutation V1340I in Brugada syndrome augmenting arrhythmias during febrile illness.

Samani K et al.

Heart Rhythm, 2009

May fever trigger ventricular fibrillation?

Pasquié JL

Indian Pacing and Electrophysiology Journal, 2005

Pathophysiology of Brugada syndrome.

Chahine M

Journal of Cardiovascular Electrophysiology, 2003

Sodium channel gene (SCN5A) mutations in 44 index patients with Brugada syndrome: different incidences in familial and sporadic disease.

Schulze-Bahr E et al.

Human Mutation, 2003

A newly characterized SCN5A mutation underlying Brugada syndrome unmasked by hyperthermia.

Mok NS et al.

Journal of Cardiovascular Electrophysiology, 2003

Genetic control of sodium channel function.

Tan HL et al.

Cardiovascular Research, 2003

[Brugada's syndrome: epidemiology, risk stratification, and clinical management].

Grillo M et al.

Italian Heart Journal. Supplement : Official Journal of the Italian Federation of Cardiology, 2002

Natural history of Brugada syndrome: insights for risk stratification and management.

Priori SG et al.

Circulation, 2002

SCN5A channelopathies--an update on mutations and mechanisms.

Zimmer T et al.

Progress in Biophysics and Molecular Biology, 0

Ventricular flutter triggered by fever in a patient with Brugada syndrome.

McIntyre WF et al.

Journal of Electrocardiology, 0

A hot topic: temperature sensitive sodium channelopathies.

Egri C et al.

Channels (austin, Tex.), 0

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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."