Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.V255A
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KCNQ1

NM_000218.3:p.V255A

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

Structural mechanisms for the activation of human cardiac KCNQ1 channel by electro-mechanical coupling enhancers.

Ma D et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

Structural and electrophysiological basis for the modulation of KCNQ1 channel currents by ML277.

Willegems K et al.

Nature Communications, 2022

Allosteric features of KCNQ1 gating revealed by alanine scanning mutagenesis.

Ma LJ et al.

Biophysical Journal, 2011

The S4-S5 linker of KCNQ1 channels forms a structural scaffold with the S6 segment controlling gate closure.

Labro AJ et al.

The Journal of Biological Chemistry, 2011

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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."