Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.D317A
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KCNQ1

NM_000218.3:p.D317A

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

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

Mechanism of external K+ sensitivity of KCNQ1 channels.

Abrahamyan A et al.

The Journal of General Physiology, 2023

Allosteric features of KCNQ1 gating revealed by alanine scanning mutagenesis.

Ma LJ et al.

Biophysical Journal, 2011

An inactivation gate in the selectivity filter of KCNQ1 potassium channels.

Gibor G et al.

Biophysical Journal, 2007

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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."