Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.S143F
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KCNQ1

NM_000218.3:p.S143F

Associated Papers

Mapping the Functional Landscape of KCNQ1 to Define Ion Channel Mechanisms and Arrhythmia Risk.

Harvey ML et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41445606 (PubMed )
Supplement: media-1.docx

Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.

Tarnovskaya SI et al.

International Journal of Molecular Sciences, 2025

40724807 (PubMed )
Supplement: ijms-26-06561-s001.zip › ijms-3705358_SupplementaryTable2.xls › SupplementaryTable2

Primary Electrical Heart Disease-Principles of Pathophysiology and Genetics.

Badura K et al.

International Journal of Molecular Sciences, 2024

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 › S12

Mutations in voltage-gated L-type calcium channel: implications in cardiac arrhythmia.

Zhang Q et al.

Channels (austin, Tex.), 2018

Inherited calcium channelopathies in the pathophysiology of arrhythmias.

Venetucci L et al.

Nature Reviews. Cardiology, 2012

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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."