Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.P99R
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KCNQ1

NM_000218.3:p.P99R

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

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

Integrative analysis of KCNQ1 variants reveals molecular mechanisms of type 1 long QT syndrome pathogenesis.

Brewer KR et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

39969993 (PubMed )
Supplement: pnas.2412971122.sapp.pdf

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation.

Jones EG et al.

Journal of Visualized Experiments : Jove, 2019

Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.

Ioakeimidis NS et al.

Journal of Biological Research (thessalonike, Greece), 2017

Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths.

Wang D et al.

Forensic Science International, 2014

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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."