Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.Q1077del1
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SCN5A

NM_198056.3:p.Q1077del1

Associated Papers

Complex interactions between p.His558Arg and linked variants in the sodium voltage-gated channel alpha subunit 5 (Na V 1.5).

Lopes-Marques M et al.

Peerj, 2022

Predicting changes to INa from missense mutations in human SCN5A.

Clerx M et al.

Scientific Reports, 2018

A common polymorphism in the SCN5A gene is associated with dilated cardiomyopathy.

Mazzaccara C et al.

Journal of Cardiovascular Medicine (hagerstown, Md.), 2018

Escape capture bigeminy: phenotypic marker of cardiac sodium channel voltage sensor mutation R222Q.

Nair K et al.

Heart Rhythm, 2012

SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene.

Poelzing S et al.

Circulation, 2006

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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."