Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.G639R
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SCN5A

NM_000335.5:p.G639R

Associated Papers

Exploration of calcium and amino acids for children with primary cardiomyopathies based on genetic characteristics.

Jiang S et al.

Frontiers in Pediatrics, 2025

41341110 (PubMed )
Supplement: Datasheet1.xlsx › Supplementary_Table_S1

Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Huang W et al.

Protein & Cell, 2017

Rapid, sensitive and inexpensive detection of SCN5A genetic variations by high resolution melting analysis.

Millat G et al.

Clinical Biochemistry, 2009

Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

Millat G et al.

Clinical Genetics, 2006

SCN5A channelopathies--an update on mutations and mechanisms.

Zimmer T et al.

Progress in Biophysics and Molecular Biology, 0

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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."