Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.F93S
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SCN5A

NM_000335.5:p.F93S

Associated Papers

Dual receptor-sites reveal the structural basis for hyperactivation of sodium channels by poison-dart toxin batrachotoxin.

Tonggu L et al.

Nature Communications, 2024

38485923 (PubMed )
Supplement: 41467_2024_45958_MOESM1_ESM.pdf

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

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32893267 (PubMed )
Supplement: 41436_2020_946_MOESM2_ESM.xlsx › S13

High-Throughput Reclassification of SCN5A Variants.

Glazer AM et al.

American Journal of Human Genetics, 2020

An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.

Kapplinger JD et al.

Heart Rhythm, 2010

Clinical aspects and prognosis of Brugada syndrome in children.

Probst V et al.

Circulation, 2007

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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."