Varaico: Literature-Extracted Genetic Variants

Gene:SCN1B
Variant:p.V138I
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SCN1B

NM_001037.5:p.V138I

Associated Papers

Next generation sequencing: a possible answer to sudden unexplained deaths in a young South African cohort?

van Deventer BS et al.

Forensic Science, Medicine, and Pathology, 2025

39900885 (PubMed )
Supplement: 12024_2025_944_MOESM4_ESM.pdf

Impact of rs1805127 and rs55742440 Variants on Atrial Remodeling in Hypertrophic Cardiomyopathy Patients with Atrial Fibrillation: A Romanian Cohort Study.

Popa-Fotea NM et al.

International Journal of Molecular Sciences, 2023

38139087 (PubMed )
Supplement: ijms-24-17244-s001.zip › ijms-2684600-supplementary.pdf

Cardiac sodium channel complexes and arrhythmia: structural and functional roles of the β1 and β3 subunits.

Salvage SC et al.

The Journal of Physiology, 2023

Voltage-Gated Sodium Channel β1 Gene: An Overview.

Al-Ward H et al.

Human Heredity, 2020

ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.

Handley MT et al.

Plos Genetics, 2019

Voltage-Gated Sodium Channel β1/β1B Subunits Regulate Cardiac Physiology and Pathophysiology.

Edokobi N et al.

Frontiers in Physiology, 2018

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

Proost D et al.

The Journal of Molecular Diagnostics : Jmd, 2017

Molecular investigation by whole exome sequencing revealed a high proportion of pathogenic variants among Thai victims of sudden unexpected death syndrome.

Suktitipat B et al.

Plos One, 2017

Sodium channel β subunits: emerging targets in channelopathies.

O'Malley HA et al.

Annual Review of Physiology, 2015

On the multiple roles of the voltage gated sodium channel β1 subunit in genetic diseases.

Baroni D et al.

Frontiers in Pharmacology, 2015

Is sudden unexplained nocturnal death syndrome in Southern China a cardiac sodium channel dysfunction disorder?

Liu C et al.

Forensic Science International, 2014

Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies.

Orrico A et al.

Clinical Genetics, 2009

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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."