Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.R34H
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SCN5A

NM_000335.5:p.R34H

Associated Papers

Clinical presentation and outcomes of patients with biallelic SCN5A variants: A systematic review.

Surget E et al.

Heart Rhythm O2, 2025

Multi-region sequencing unveils novel actionable targets and spatial heterogeneity in esophageal squamous cell carcinoma.

Yan T et al.

Nature Communications, 2019

30975989 (PubMed )
Supplement: 41467_2019_9255_MOESM4_ESM.xlsx › Supplementary_Data_2a

Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population.

Thongnak C et al.

Disease Markers, 2016

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

Kapplinger JD et al.

Heart Rhythm, 2010

Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A.

Medeiros-Domingo A et al.

Heart Rhythm, 2009

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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."