Varaico: Literature-Extracted Genetic Variants

Gene:SCN1B
Variant:p.R214Q
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SCN1B

NM_199037.5:p.R214Q

Associated Papers

SCN1Bβ mutations that affect their association with Kv4.3 underlie early repolarization syndrome.

Yao H et al.

Journal of Cellular and Molecular Medicine, 2018

Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease.

Proost D et al.

The Journal of Molecular Diagnostics : Jmd, 2017

Rare variants in genes encoding the cardiac sodium channel and associated compounds and their impact on outcome of catheter ablation of atrial fibrillation.

Husser D et al.

Plos One, 2017

Contribution of Cardiac Sodium Channel β-Subunit Variants to Brugada Syndrome.

Peeters U et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2015

SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients.

Ricci MT et al.

Scientific Reports, 2014

Investigations of the Navβ1b sodium channel subunit in human ventricle; functional characterization of the H162P Brugada syndrome mutant.

Yuan L et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2014

Mutation analysis of the candidate genes SCN1B-4B, FHL1, and LMNA in patients with arrhythmogenic right ventricular cardiomyopathy.

Refsgaard L et al.

Applied & Translational Genomics, 2012

Voltage-gated Na+ channel β1B: a secreted cell adhesion molecule involved in human epilepsy.

Patino GA et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 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."