Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.H278R
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SCN5A

NM_000335.5:p.H278R

Associated Papers

Clinical Features of Brugada Syndrome Patients With SCN5A Variants.

Okamura S et al.

Journal of Cardiovascular Electrophysiology, 2025

Genetic basis of sudden death after COVID-19 vaccination in Thailand.

Ittiwut C et al.

Heart Rhythm, 2022

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

Plasma MicroRNAs as noninvasive diagnostic biomarkers in patients with Brugada syndrome.

Ikeuchi Y et al.

Plos One, 2022

Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling.

Tobita T et al.

Scientific Reports, 2018

29386531 (PubMed )
Supplement: 41598_2018_20114_MOESM1_ESM.pdf

H558R, a common SCN5A polymorphism, modifies the clinical phenotype of Brugada syndrome by modulating DNA methylation of SCN5A promoters.

Matsumura H et al.

Journal of Biomedical Science, 2017

Common Variant Near HEY2 Has a Protective Effect on Ventricular Fibrillation Occurrence in Brugada Syndrome by Regulating the Repolarization Current.

Nakano Y et al.

Circulation. Arrhythmia and Electrophysiology, 2016

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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."