Varaico: Literature-Extracted Genetic Variants

Gene:SCN3B
Variant:p.V54G
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SCN3B

NM_001040151.2:p.V54G

Associated Papers

Identification of a novel Scn3b mutation in a Chinese Brugada syndrome pedigree: implications for Nav1.5 electrophysiological properties and intracellular distribution of Nav1.5 and Navβ3.

Fan J et al.

Frontiers in Cardiovascular Medicine, 2024

Two Novel Functional Mutations in Promoter Region of SCN3B Gene Associated with Atrial Fibrillation.

Lin L et al.

Life (basel, Switzerland), 2022

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

Cardiac Genetic Predisposition in Sudden Infant Death Syndrome.

Tester DJ et al.

Journal of the American College of Cardiology, 2018

Voltage-Gated Sodium Channel β Subunits and Their Related Diseases.

Bouza AA et al.

Handbook of Experimental Pharmacology, 2018

Sudden infant death syndrome and inherited cardiac conditions.

Baruteau AE et al.

Nature Reviews. Cardiology, 2017

Sodium channel β subunits: emerging targets in channelopathies.

O'Malley HA et al.

Annual Review of Physiology, 2015

Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic predispositions for BRCAx familial breast cancer.

Wen H et al.

Bmc Cancer, 2014

24969172 (PubMed )
Supplement: 1471-2407-14-470-S2.xlsx › Proband-specific_variants

Novel SCN3B mutation associated with brugada syndrome affects intracellular trafficking and function of Nav1.5.

Ishikawa T et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2013

Neurological perspectives on voltage-gated sodium channels.

Eijkelkamp N et al.

Brain : a Journal of Neurology, 2012

Biology of cardiac sodium channel Nav1.5 expression.

Rook MB et al.

Cardiovascular Research, 2012

Cardiac ion channelopathies and the sudden infant death syndrome.

Wilders R

Isrn Cardiology, 2012

Cardiac ion channel mutations in the sudden infant death syndrome.

Klaver EC et al.

International Journal of Cardiology, 2011

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

Wilde AA et al.

Circulation Research, 2011

Emerging concepts in the pharmacogenomics of arrhythmias: ion channel trafficking.

Harkcom WT et al.

Expert Review of Cardiovascular Therapy, 2010

Functional dominant-negative mutation of sodium channel subunit gene SCN3B associated with atrial fibrillation in a Chinese GeneID population.

Wang P et al.

Biochemical and Biophysical Research Communications, 2010

Loss-of-function mutation of the SCN3B-encoded sodium channel {beta}3 subunit associated with a case of idiopathic ventricular fibrillation.

Valdivia CR et al.

Cardiovascular Research, 2010

The A, B, Cs of sudden infant death syndrome: an electrical disorder?

Towbin JA

Heart Rhythm, 2010

Sudden infant death syndrome-associated mutations in the sodium channel beta subunits.

Tan BH et al.

Heart Rhythm, 2010

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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."