Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.S1102Y
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SCN5A

NM_000335.5:p.S1102Y

Associated Papers

Voltage-Gated Sodium Channels: A Therapeutic Target in Ischemic Heart Disease.

Zhang XL et al.

Reviews in Cardiovascular Medicine, 2025

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

Chaloemthanetphong A et al.

Forensic Science International. Genetics, 2025

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq

Exploring Atrial Fibrillation: Understanding the Complex Relation Between Lifestyle and Genetic Factors.

Tamayo-Trujillo R et al.

Journal of Medical Cases, 2024

Genomic analysis of an Ecuadorian individual carrying an SCN5A rare variant.

Cadena-Ullauri S et al.

Bmc Cardiovascular Disorders, 2024

Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland.

Sveinbjornsson G et al.

Journal of the American Heart Association, 2023

37449562 (PubMed )
Supplement: JAH3-12-e029845-s001.pdf

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

Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study.

Ware SM et al.

Journal of the American Heart Association, 2021

33906374 (PubMed )
Supplement: JAH3-10-e017731-s001.xlsx › Supplemental_Table_S4a

The role of sodium channels in sudden unexpected death in pediatrics.

Rochtus AM et al.

Molecular Genetics & Genomic Medicine, 2020

Next-generation sequencing using microfluidic PCR enrichment for molecular autopsy.

Raju H et al.

Bmc Cardiovascular Disorders, 2019

Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.

Minoche AE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

Wright CF et al.

American Journal of Human Genetics, 2019

30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2

Cardiomyopathy and Preeclampsia.

Gammill HS et al.

Circulation, 2018

30021846 (PubMed )
Supplement: circ_circulationaha-2017-031527_supp1.pdf

An African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillation.

Blancard M et al.

Scientific Reports, 2018

Feasibility of analysis of the SCN5A gene in paraffin embedded samples in sudden infant death cases at the Pretoria Medico-Legal Laboratory, South Africa.

van Deventer BS et al.

Forensic Science, Medicine, and Pathology, 2018

Mechanisms Underlying the Actions of Antidepressant and Antipsychotic Drugs That Cause Sudden Cardiac Arrest.

Sicouri S et al.

Arrhythmia & Electrophysiology Review, 2018

Genetic risk stratification in cardiac arrhythmias.

Napolitano C et al.

Current Opinion in Cardiology, 2018

SCN5A Variants: Association With Cardiac Disorders.

Li W et al.

Frontiers in Physiology, 2018

Genetics of sudden cardiac death - An epidemiologic perspective.

Kääb S

International Journal of Cardiology, 2017

Fine-mapping, novel loci identification, and SNP association transferability in a genome-wide association study of QRS duration in African Americans.

Evans DS et al.

Human Molecular Genetics, 2016

Is There a Role for Genetics in the Prevention of Sudden Cardiac Death?

Faragli A et al.

Journal of Cardiovascular Electrophysiology, 2016

Common human ANK2 variant confers in vivo arrhythmia phenotypes.

Musa H et al.

Heart Rhythm, 2016

Arrhythmias: Opening Pandora's Box -- incidental genetic findings.

Behr ER et al.

Nature Reviews. Cardiology, 2016

The cardiac sodium channel gene SCN5A and its gene product NaV1.5: Role in physiology and pathophysiology.

Veerman CC et al.

Gene, 2015

A common SCN5A variant is associated with PR interval and atrial fibrillation among African Americans.

Ilkhanoff L et al.

Journal of Cardiovascular Electrophysiology, 2014

Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium.

Magnani JW et al.

Circulation. Cardiovascular Genetics, 2014

The genetics of pro-arrhythmic adverse drug reactions.

Petropoulou E et al.

British Journal of Clinical Pharmacology, 2014

Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths.

Wang D et al.

Forensic Science International, 2014

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Cooper DN et al.

Human Genetics, 2013

A study of the SCN5A gene in a cohort of 76 patients with Brugada syndrome.

García-Molina E et al.

Clinical Genetics, 2013

Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.

Stattin EL et al.

Bmc Cardiovascular Disorders, 2012

Clinical and genetic determinants of torsade de pointes risk.

Sauer AJ et al.

Circulation, 2012

Cardiovascular pharmacogenetics.

Myburgh R et al.

Pharmacology & Therapeutics, 2012

The genetics of sudden cardiac death.

Arking DE et al.

Annual Review of Genomics and Human Genetics, 2012

Striking In vivo phenotype of a disease-associated human SCN5A mutation producing minimal changes in vitro.

Watanabe H et al.

Circulation, 2011

SCN5A variation is associated with electrocardiographic traits in the Jackson Heart Study.

Jeff JM et al.

Circulation. Cardiovascular Genetics, 2011

Cardiac channelopathies and sudden infant death syndrome.

Tfelt-Hansen J et al.

Cardiology, 2011

Genetics of sudden death.

Naik N et al.

The Indian Journal of Medical Research, 2010

SCN5A allelic expression imbalance in African-Americans heterozygous for the common variant p.Ser1103Tyr.

Killen SA et al.

Bmc Medical Genetics, 2010

Genomics, heart failure and sudden cardiac death.

Darbar D

Heart Failure Reviews, 2010

When is genetic testing useful in patients suspected to have inherited cardiac arrhythmias?

Fowler SJ et al.

Current Opinion in Cardiology, 2010

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

Common genetic variants in sudden cardiac death.

George AL

Heart Rhythm, 2009

Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome.

Itoh H et al.

Circulation. Arrhythmia and Electrophysiology, 2009

Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae.

Smith JG et al.

Heart Rhythm, 2009

Common variants at ten loci influence QT interval duration in the QTGEN Study.

Newton-Cheh C et al.

Nature Genetics, 2009

Sudden infant death syndrome: do ion channels play a role?

Van Norstrand DW et al.

Heart Rhythm, 2009

Genetic determinants of sudden cardiac death.

Noseworthy PA et al.

Circulation, 2008

Overrepresentation of the proarrhythmic, sudden death predisposing sodium channel polymorphism S1103Y in a population-based cohort of African-American sudden infant death syndrome.

Van Norstrand DW et al.

Heart Rhythm, 2008

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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."