Varaico: Literature-Extracted Genetic Variants

Gene:SCN5A
Variant:p.N70K
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SCN5A

NM_000335.5:p.N70K

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

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

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

Determining the pathogenicity of genetic variants associated with cardiac channelopathies.

Campuzano O et al.

Scientific Reports, 2015

Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations.

Hoshi M et al.

Circulation. Cardiovascular Genetics, 2014

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

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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."