Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.I137M
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SCN5A

NM_000335.5:p.I137M

Associated Papers

Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.

Halford JL et al.

Nature Communications, 2022

36042188 (PubMed )
Supplement: 41467_2022_32009_MOESM4_ESM.xlsx › Supplementary_Data_2

Arrhythmogenic Cardiomyopathy: Molecular Insights for Improved Therapeutic Design.

Stevens TL et al.

Journal of Cardiovascular Development and Disease, 2020

The role of mutations in the SCN5A gene in cardiomyopathies.

Zaklyazminskaya E et al.

Biochimica Et Biophysica Acta, 2016

SCN5A mutation in Chinese patients with arrhythmogenic right ventricular dysplasia.

Yu J et al.

Herz, 2014

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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."