Varaico: Literature-Extracted Genetic Variants

Gene:SCN2B
Variant:p.D211G
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SCN2B

NM_004588.5:p.D211G

Associated Papers

Remodeling of Ion Channel Trafficking and Cardiac Arrhythmias.

Blandin CE et al.

Cells, 2021

Sudden Cardiac Death-A New Insight Into Potentially Fatal Genetic Markers.

Primorac D et al.

Frontiers in Medicine, 2021

N-Glycosylation of the voltage-gated sodium channel β2 subunit is required for efficient trafficking of NaV1.5/β2 to the plasma membrane.

Cortada E et al.

The Journal of Biological Chemistry, 2019

Trafficking and Function of the Voltage-Gated Sodium Channel β2 Subunit.

Cortada E et al.

Biomolecules, 2019

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

Bouza AA et al.

Handbook of Experimental Pharmacology, 2018

Trafficking and localisation to the plasma membrane of Nav 1.5 promoted by the β2 subunit is defective due to a β2 mutation associated with Brugada syndrome.

Dulsat G et al.

Biology of the Cell, 2017

Brugada syndrome: a fatal disease with complex genetic etiologies - still a long way to go.

Wu Y et al.

Forensic Sciences Research, 2017

Genetics of Brugada syndrome.

Juang JJ et al.

Journal of Arrhythmia, 2016

Sodium channel β subunits: emerging targets in channelopathies.

O'Malley HA et al.

Annual Review of Physiology, 2015

Comprehensive Genetic Characterization of a Spanish Brugada Syndrome Cohort.

Selga E et al.

Plos One, 2015

A missense mutation in the sodium channel β2 subunit reveals SCN2B as a new candidate gene for Brugada syndrome.

Riuró H et al.

Human Mutation, 2013

The genetic component of Brugada syndrome.

Nielsen MW et al.

Frontiers in Physiology, 2013

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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."