Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.V728I
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SCN5A

NM_000335.5:p.V728I

Associated Papers

SCN5A Cardiomyopathy: from Ion Channel Dysfunction To Clinical Disease.

Heymans ABM et al.

Current Cardiology Reports, 2025

Challenges in Brugada Syndrome Stratification: Investigating SCN5A Mutation Localization and Clinical Phenotypes.

Tarantino A et al.

International Journal of Molecular Sciences, 2023

38068978 (PubMed )
Supplement: ijms-24-16658-s001.zip › ijms-2688384-supplementary.pdf

Whole-exome sequencing analyses in a Saudi Ischemic Stroke Cohort reveal association signals, and shows polygenic risk scores are related to Modified Rankin Scale Risk.

Alkhamis FA et al.

Functional & Integrative Genomics, 2023

36973604 (PubMed )
Supplement: 10142_2023_1039_MOESM1_ESM.xlsx › all_variants

Distinct Features of Probands With Early Repolarization and Brugada Syndromes Carrying SCN5A Pathogenic Variants.

Zhang ZH et al.

Journal of the American College of Cardiology, 2021

Frequent FOXA1-Activating Mutations in Extramammary Paget's Disease.

Takeichi T et al.

Cancers, 2020

32235312 (PubMed )
Supplement: cancers-12-00820-s001.pdf

A study of the SCN5A gene in a cohort of 76 patients with Brugada syndrome.

García-Molina E et al.

Clinical Genetics, 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."