Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.R1023C
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SCN5A

NM_000335.5:p.R1023C

Associated Papers

The role of adrenaline in comprehensive management of electrical storms in high-risk Brugada syndrome with rare SCN5A mutation: a case report from medical stabilization to implantable cardioverter-defibrillator implantation.

Vo DT et al.

European Heart Journal. Case Reports, 2025

[Familial cardiomyopathy caused by mutation of SCN5A gene].

Dai GY et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2021

Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit.

Liu J et al.

Human Mutation, 2021

Pathological findings of myocardium in a patient with cardiac conduction defect associated with an SCN5A mutation.

Kawano H et al.

Medical Molecular Morphology, 2021

Frequency of Irritable Bowel Syndrome in Patients with Brugada Syndrome and Drug-Induced Type 1 Brugada Pattern.

Sarica AS et al.

The American Journal of Cardiology, 2021

Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients.

Shimizu W et al.

Jama Cardiology, 2019

Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.

Son MJ et al.

Journal of Korean Medical Science, 2018

Dysfunctional Nav1.5 channels due to SCN5A mutations.

Han D et al.

Experimental Biology and Medicine (maywood, N.j.), 2018

Genetic Etiology for Alcohol-Induced Cardiac Toxicity.

Ware JS et al.

Journal of the American College of Cardiology, 2018

29773157 (PubMed )
Supplement: mmc2.xlsx › Final_VariantList_Rare_ACMonly

Implantable cardioverter defibrillator therapy in repaired tetralogy of Fallot after pulmonary valve replacement: Implications for the mechanism of ventricular arrhythmia.

Chiu SN et al.

International Journal of Cardiology, 2017

H558R, a common SCN5A polymorphism, modifies the clinical phenotype of Brugada syndrome by modulating DNA methylation of SCN5A promoters.

Matsumura H et al.

Journal of Biomedical Science, 2017

SCN5A mutation associated with ventricular fibrillation, early repolarization, and concealed myocardial abnormalities.

Watanabe H et al.

International Journal of Cardiology, 2013

Coexisting mutations/polymorphisms of the long QT syndrome genes in patients with repaired Tetralogy of Fallot are associated with the risks of life-threatening events.

Chiu SN et al.

Human Genetics, 2012

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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."