Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.S253A
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KCNQ1

NM_000218.3:p.S253A

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

A PIP2 substitute mediates voltage sensor-pore coupling in KCNQ activation.

Liu Y et al.

Communications Biology, 2020

32678288 (PubMed )
Supplement: 42003_2020_1104_MOESM1_ESM.pdf

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."