Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.G292S
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SCN5A

NM_000335.5:p.G292S

Associated Papers

Characteristics and pharmacological responsiveness in hiPSC models of inherited cardiomyopathy.

Gerritse M et al.

Pharmacology & Therapeutics, 2025

Cellular-level analyses of SCN5A mutations in left ventricular noncompaction cardiomyopathy suggest electrophysiological mechanisms for ventricular tachycardia.

Li Y et al.

Biochemistry and Biophysics Reports, 2024

Clinical and Genetic Features of Korean Inherited Arrhythmia Probands.

Jeong JH et al.

Korean Circulation Journal, 2023

37653714 (PubMed )
Supplement: kcj-53-693-s005.xls › kcj-53-693-s005

Genetic characterization of dilated cardiomyopathy patients undergoing heart transplantation in the Chinese population by whole-exome sequencing.

Lian H et al.

Journal of Translational Medicine, 2023

37461109 (PubMed )
Supplement: 12967_2023_4282_MOESM3_ESM.xls › Table_S3

Clinical characteristics and electrophysiologic properties of SCN5A variants in fever-induced Brugada syndrome.

Chen GX et al.

Ebiomedicine, 2023

Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.

Cong PK et al.

Clinical and Translational Medicine, 2022

35538921 (PubMed )
Supplement: CTM2-12-e866-s001.docx

Experimental Models of Brugada syndrome.

Sendfeld F et al.

International Journal of Molecular Sciences, 2019

Patients diagnosed with long QT syndrome after repair of congenital heart disease.

Song MK et al.

Pacing and Clinical Electrophysiology : Pace, 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

Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.

Tong W et al.

Scientific Reports, 2018

29581464 (PubMed )
Supplement: 41598_2018_23503_MOESM1_ESM.xls › P7

Findings of a 1303 Korean whole-exome sequencing study.

Kwak SH et al.

Experimental & Molecular Medicine, 2017

28706299 (PubMed )
Supplement: emm2017142x4.xls › Table_S1

Electrophysiological and trafficking defects of the SCN5A T353I mutation in Brugada syndrome are rescued by alpha-allocryptopine.

Zhang J et al.

European Journal of Pharmacology, 2015

A novel missense mutation, I890T, in the pore region of cardiac sodium channel causes Brugada syndrome.

Tarradas A et al.

Plos One, 2013

23308164 (PubMed )
Supplement: pone.0053220.s002.doc

A novel strategy using cardiac sodium channel polymorphic fragments to rescue trafficking-deficient SCN5A mutations.

Shinlapawittayatorn K et al.

Circulation. Cardiovascular Genetics, 2011

A sodium channel pore mutation causing Brugada syndrome.

Pfahnl AE et al.

Heart Rhythm, 2007

Brugada syndrome in Japan.

Hiraoka M

Circulation Journal : Official Journal of the Japanese Circulation Society, 2007

Genetic analysis of Brugada syndrome in Western Japan: two novel mutations.

Niimura H et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2004

SCN5A channelopathies--an update on mutations and mechanisms.

Zimmer T et al.

Progress in Biophysics and Molecular Biology, 0

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