Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.A10D
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KCNQ1

NM_000218.3:p.A10D

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-2.xlsx › File_S1

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

High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.

Muhammad A et al.

Genome Medicine, 2024

38816749 (PubMed )
Supplement: 13073_2024_1340_MOESM3_ESM.xlsx › SpliceAI

Infanticide vs. inherited cardiac arrhythmias.

Brohus M et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2021

33200177 (PubMed )
Supplement: euaa272_supplementary_appendix.docx
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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."