Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.Y739D
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SCN5A

NM_000335.5:p.Y739D

Associated Papers

Mapping structural distribution and gating-property impacts of disease-associated mutations in voltage-gated sodium channels.

Akbari Ahangar A et al.

Iscience, 2024

39286500 (PubMed )
Supplement: mmc1.pdf

Biophysical mechanisms of myocardium sodium channelopathies.

Zaytseva AK et al.

Pflugers Archiv : European Journal of Physiology, 2024

In silico validation revealed the role of SCN5A mutations and their genotype-phenotype correlations in Brugada syndrome.

Pham HM et al.

Molecular Genetics & Genomic Medicine, 2023

Characterization of the novel heterozygous SCN5A genetic variant Y739D associated with Brugada syndrome.

Zaytseva AK et al.

Biochemistry and Biophysics Reports, 2022

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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."