Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.W879R
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SCN5A

NM_000335.5:p.W879R

Associated Papers

Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brunklaus A et al.

Brain : a Journal of Neurology, 2022

35037686 (PubMed )
Supplement: awac006_Supplementary_Data.pdf

The 3D mutational constraint on amino acid sites in the human proteome.

Li B et al.

Nature Communications, 2022

35672414 (PubMed )
Supplement: 41467_2022_30936_MOESM1_ESM.pdf

High-Throughput Reclassification of SCN5A Variants.

Glazer AM et al.

American Journal of Human Genetics, 2020

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