Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.S1103Y
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SCN5A

NM_000335.5:p.S1103Y

Associated Papers

Common Genetic Variants of The Cardiac Sodium Channel Alter Patient Response to Class 1b Antiarrhythmics.

Marras M et al.

Biorxiv : the Preprint Server for Biology, 2026

A Common Ancestry-Specific Sodium Channel Variant Increases Susceptibility to Drug-Induced QTc Prolongation: Evidence From a Large Biobank.

Stewart R et al.

Circulation, 2025

Long QT Syndrome.

Schwartz PJ et al.

The New England Journal of Medicine, 2025

Next generation sequencing: a possible answer to sudden unexplained deaths in a young South African cohort?

van Deventer BS et al.

Forensic Science, Medicine, and Pathology, 2025

39900885 (PubMed )
Supplement: 12024_2025_944_MOESM4_ESM.pdf

Pharmacogenomics in cardiac therapy: Personalizing treatment for heart health.

Naderi N et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2025

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

Surget E et al.

Heart Rhythm O2, 2025

Genetics of Sudden Cardiac Arrest: Overview of Genetic Risk Factors and Aetiologies.

Li Tan SM et al.

Arrhythmia & Electrophysiology Review, 2025

A novel gain-of-function mutation SCN5A-N470K associated with African American familial atrial fibrillation.

Cao X et al.

American Journal of Cardiovascular Disease, 2025

Mapping structural distribution and gating-property impacts of disease-associated mutations in voltage-gated sodium channels.

Akbari Ahangar A et al.

Iscience, 2024

39286500 (PubMed )
Supplement: mmc1.pdf

Genome-Wide Interaction Analyses of Serum Calcium on Ventricular Repolarization Time in 125 393 Participants.

Young WJ et al.

Journal of the American Heart Association, 2024

Genetics and Pharmacogenetics of Atrial Fibrillation: A Mechanistic Perspective.

Owais A et al.

Jacc. Basic to Translational Science, 2024

High-throughput methods for cardiac cellular electrophysiology studies: the road to personalized medicine.

Seibertz F et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2024

SIGMA leverages protein structural information to predict the pathogenicity of missense variants.

Zhao H et al.

Cell Reports Methods, 2024

38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1

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

Patient-specific, re-engineered cardiomyocyte model confirms the circumstance-dependent arrhythmia risk associated with the African-specific common SCN5A polymorphism p.S1103Y: Implications for the increased sudden deaths observed in black individuals during the COVID-19 pandemic.

Hamrick SK et al.

Heart Rhythm, 2022

Common Ancestry-Specific Ion Channel Variants Predispose to Drug-Induced Arrhythmias.

Wada Y et al.

Circulation, 2022

Clinical Genetics of Inherited Arrhythmogenic Disease in the Pediatric Population.

Martínez-Barrios E et al.

Biomedicines, 2022

Genotype and Cardiac Outcomes in Pediatric Dilated Cardiomyopathy.

Khan RS et al.

Journal of the American Heart Association, 2022

Deciphering Common Long QT Syndrome Using CRISPR/Cas9 in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Song Y et al.

Frontiers in Cardiovascular Medicine, 2022

Effects of Mexiletine on a Race-specific Mutation in Nav1.5 Associated With Long QT Syndrome.

Wu X et al.

Frontiers in Physiology, 2022

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S2

Ethnic-Related Sodium Voltage-Gated Channel α Subunit 5 Polymorphisms Shape the In Vitro Pharmacological Action of Amiodarone upon Nav1.5.

Joviano-Santos JV et al.

Molecular Pharmacology, 2021

Common Variants in KCNE1, KCNH2, and SCN5A May Impact Cardiac Arrhythmia Risk.

Vatta M et al.

Circulation. Genomic and Precision Medicine, 2021

Genome-wide association study of antipsychotic-induced sinus bradycardia in Chinese schizophrenia patients.

Weng S et al.

Plos One, 2021

33914752 (PubMed )
Supplement: pone.0249997.s006.xlsx › Pubmed

Genetic susceptibility for COVID-19-associated sudden cardiac death in African Americans.

Giudicessi JR et al.

Heart Rhythm, 2020

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

Rochtus AM et al.

Molecular Genetics & Genomic Medicine, 2020

32449611 (PubMed )
Supplement: MGG3-8-e1309-s002.xlsx › S1_Table

Cannabinoid-Induced Brugada Syndrome: A Case Report.

Stockholm SC et al.

Cureus, 2020

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM23_ESM.xlsx › Supplementary_Data_20

Hypoxia Produces Pro-arrhythmic Late Sodium Current in Cardiac Myocytes by SUMOylation of NaV1.5 Channels.

Plant LD et al.

Cell Reports, 2020

32075761 (PubMed )
Supplement: NIHMS1563618-supplement-2.pdf

Reappraisal of variants previously linked with sudden infant death syndrome: results from three population-based cohorts.

Paludan-Müller C et al.

European Journal of Human Genetics : Ejhg, 2019

Sudden Cardiac Death (SCD) - risk stratification and prediction with molecular biomarkers.

Osman J et al.

Journal of Biomedical Science, 2019

Genetic analysis of pharmacogenomic VIP variants in the Blang population from Yunnan Province of China.

Zhang C et al.

Molecular Genetics & Genomic Medicine, 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

"Pill-in-the-Pocket" Treatment of Propafenone Unmasks ECG Brugada Pattern in an Atrial Fibrillation Patient With a Common SCN5A R1193Q Polymorphism.

Li L et al.

Frontiers in Physiology, 2019

Channelopathy as a SUDEP Biomarker in Dravet Syndrome Patient-Derived Cardiac Myocytes.

Frasier CR et al.

Stem Cell Reports, 2018

30146492 (PubMed )
Supplement: mmc3.pdf

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

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

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

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

Functional Invalidation of Putative Sudden Infant Death Syndrome-Associated Variants in the KCNH2-Encoded Kv11.1 Channel.

Smith JL et al.

Circulation. Arrhythmia and Electrophysiology, 2018

Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing.

Giudicessi JR et al.

Circulation, 2018

pH Modulation of Voltage-Gated Sodium Channels.

Peters CH et al.

Handbook of Experimental Pharmacology, 2018

SCN5A Variants: Association With Cardiac Disorders.

Li W et al.

Frontiers in Physiology, 2018

Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.

Ioakeimidis NS et al.

Journal of Biological Research (thessalonike, Greece), 2017

Sudden infant death syndrome and inherited cardiac conditions.

Baruteau AE et al.

Nature Reviews. Cardiology, 2017

Sudden cardiac death: focus on the genetics of channelopathies and cardiomyopathies.

Magi S et al.

Journal of Biomedical Science, 2017

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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."