Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.Y87C
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SCN5A

NM_000335.5:p.Y87C

Associated Papers

Clinical Features of Brugada Syndrome Patients With SCN5A Variants.

Okamura S et al.

Journal of Cardiovascular Electrophysiology, 2025

Clinical Utility of Protein Language Models in Resolution of Variants of Uncertain Significance in KCNQ1, KCNH2, and SCN5A Compared With Patch-Clamp Functional Characterization.

Ye D et al.

Circulation. Genomic and Precision Medicine, 2024

Diagnostic yield and variant reassessment in the genes encoding Nav1.5 channel in Russian patients with Brugada syndrome.

Zaklyazminskaya E et al.

Frontiers in Pharmacology, 2022

Inherited and Acquired Rhythm Disturbances in Sick Sinus Syndrome, Brugada Syndrome, and Atrial Fibrillation: Lessons from Preclinical Modeling.

Iop L et al.

Cells, 2021

Calmodulin binds to the N-terminal domain of the cardiac sodium channel Nav1.5.

Wang Z et al.

Channels (austin, Tex.), 2020

Predicting changes to INa from missense mutations in human SCN5A.

Clerx M et al.

Scientific Reports, 2018

30143662 (PubMed )
Supplement: 41598_2018_30577_MOESM1_ESM.pdf

Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.

Kapplinger JD et al.

Circulation. Cardiovascular Genetics, 2015

[Clinic and genetic polymorphism of Brugada syndrome in Russian patients, caused by mutation in SCN5A gene].

Zakliaz'minskaia EV et al.

Khirurgiia, 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."