Varaico: Literature-Extracted Genetic Variants

Gene:SCN3B
Variant:p.R6K
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SCN3B

NM_001040151.2:p.R6K

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

Pathogenic signal peptide variants in the human genome.

Gutierrez Guarnizo SA et al.

Nar Genomics and Bioinformatics, 2023

37859801 (PubMed )
Supplement: lqad093_supplemental_files.zip › SupplementaryFileS4.xlsx › H-region

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

Lin L et al.

Life (basel, Switzerland), 2022

Atrial fibrillation-a complex polygenetic disease.

Andersen JH et al.

European Journal of Human Genetics : Ejhg, 2021

33279945 (PubMed )
Supplement: 41431_2020_784_MOESM3_ESM.xlsx › Sheet1

Molecular Pathology of Sodium Channel Beta-Subunit Variants.

Angsutararux P et al.

Frontiers in Pharmacology, 2021

Cardiac channelopathies: The role of sodium channel mutations.

Fonseca DJ et al.

Revista Portuguesa De Cardiologia, 2018

Sodium channel β subunits: emerging targets in channelopathies.

O'Malley HA et al.

Annual Review of Physiology, 2015

Atrial fibrillation: the role of common and rare genetic variants.

Olesen MS et al.

European Journal of Human Genetics : Ejhg, 2014

Channelopathies from mutations in the cardiac sodium channel protein complex.

Adsit GS et al.

Journal of Molecular and Cellular Cardiology, 2013

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

Wilde AA et al.

Circulation Research, 2011

Mutations in sodium channel β-subunit SCN3B are associated with early-onset lone atrial fibrillation.

Olesen MS et al.

Cardiovascular Research, 2011

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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."