Varaico: Literature-Extracted Genetic Variants

Gene:SCN4B
Variant:p.L179F
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SCN4B

NM_174934.4:p.L179F

Associated Papers

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

Significant association of rare variant p.Gly8Ser in cardiac sodium channel β4-subunit SCN4B with atrial fibrillation.

Xiong H et al.

Annals of Human Genetics, 2019

Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.

Dehghani-Samani A et al.

Acta Cardiologica Sinica, 2019

The genetic architecture of long QT syndrome: A critical reappraisal.

Giudicessi JR et al.

Trends in Cardiovascular Medicine, 2018

Cardiac channelopathies: The role of sodium channel mutations.

Fonseca DJ et al.

Revista Portuguesa De Cardiologia, 2018

Long QT Syndrome and Sinus Bradycardia-A Mini Review.

Wilders R et al.

Frontiers in Cardiovascular Medicine, 2018

Molecular Pathophysiology of Congenital Long QT Syndrome.

Bohnen MS et al.

Physiological Reviews, 2017

The impact of recent advances in genetics in understanding disease mechanisms underlying the long QT syndromes.

Harmer SC et al.

Biological Chemistry, 2016

Sodium channel β subunits: emerging targets in channelopathies.

O'Malley HA et al.

Annual Review of Physiology, 2015

Mutations of the SCN4B-encoded sodium channel β4 subunit in familial atrial fibrillation.

Li RG et al.

International Journal of Molecular Medicine, 2013

Integration of genetics into a systems model of electrocardiographic traits using HumanCVD BeadChip.

Gaunt TR et al.

Circulation. Cardiovascular Genetics, 2012

23139254 (PubMed )
Supplement: 962852_supplemental_material.pdf

Biology of cardiac sodium channel Nav1.5 expression.

Rook MB et al.

Cardiovascular Research, 2012

Phenotypical manifestations of mutations in the genes encoding subunits of the cardiac sodium channel.

Wilde AA et al.

Circulation Research, 2011

The genetic basis of long QT and short QT syndromes: a mutation update.

Hedley PL et al.

Human Mutation, 2009

From Fifth Business to Protagonist: the complex roles of ion channel anchors in cardiac arrhythmia.

Kline CF et al.

Drug Discovery Today. Disease Models, 2009

Microsatellites and SNPs linkage analysis in a Sardinian genetic isolate confirms several essential hypertension loci previously identified in different populations.

Mocci E et al.

Bmc Medical Genetics, 2009

SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome.

Medeiros-Domingo A et al.

Circulation, 2007

Molecular cloning and analysis of zebrafish voltage-gated sodium channel beta subunit genes: implications for the evolution of electrical signaling in vertebrates.

Chopra SS et al.

Bmc Evolutionary Biology, 2007

Biophysical defects in voltage.gated sodium channels associated with long QT and Brugada syndromes.

Jones DK et al.

Channels (austin, Tex.), 0

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