Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.E11K
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KCNQ1

NM_000218.3:p.E11K

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_S2

Machine learning-based penetrance of genetic variants.

Forrest IS et al.

Science (new York, N.y.), 2025

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

Clinical Utility of Protein Language Models in Resolution of Variants of Uncertain Significance in KCNQ1, KCNH2, and SCN5A Compared With Patch-Clamp Functional Characterization.

Ye D et al.

Circulation. Genomic and Precision Medicine, 2024

39119706 (PubMed )
Supplement: circgenetics_circcvg-2024-004584_supp1.pdf

Territory-Wide Chinese Cohort of Long QT Syndrome: Random Survival Forest and Cox Analyses.

Tse G et al.

Frontiers in Cardiovascular Medicine, 2021

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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."