Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.A385T
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SCN5A

NM_000335.5:p.A385T

Associated Papers

SCN5A Cardiomyopathy: from Ion Channel Dysfunction To Clinical Disease.

Heymans ABM et al.

Current Cardiology Reports, 2025

A machine learning platform for genotype-specific cardiotoxicity risk prediction using patient-derived iPSC-CMs.

Park YG et al.

Journal of Advanced Research, 2025

Systematic analysis of SCN5A variants associated with inherited cardiac diseases.

Hermida A et al.

Heart Rhythm, 2025

Requirement of β subunit for the reduced voltage-gated Na+ current of a Brugada syndrome patient having novel double missense mutation (p.A385T/R504T) of SCN5A.

Park NK et al.

The Korean Journal of Physiology & Pharmacology : Official Journal of the Korean Physiological Society and the Korean Society of Pharmacology, 2024

Clinical and Genetic Features of Korean Inherited Arrhythmia Probands.

Jeong JH et al.

Korean Circulation Journal, 2023

37653714 (PubMed )
Supplement: kcj-53-693-s007.xls › kcj-53-693-s007

Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Brewer KR et al.

Frontiers in Pharmacology, 2020

Considerations when using next-generation sequencing for genetic diagnosis of long-QT syndrome in the clinical testing laboratory.

Chae H et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017

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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."