Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.S131Splc
Back to variants list

SCN5A

NM_000335.5:p.S131Splc

Associated Papers

Characteristics and pharmacological responsiveness in hiPSC models of inherited cardiomyopathy.

Gerritse M et al.

Pharmacology & Therapeutics, 2025

Noncoding RNAs and Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes in Cardiac Arrhythmic Brugada Syndrome.

Theisen B et al.

Cells, 2023

Generation of an induced pluripotent stem cell line from a patient with conduction disease and recurrent ventricular fibrillation with a sodium voltage-gated channel alpha subunit 5 (SCN5A) gene c.392 + 3A > G splice-site variant.

Li S et al.

Stem Cell Research, 2023

Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry.

Rayani K et al.

European Journal of Human Genetics : Ejhg, 2023

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."