Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.F232C
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KCNQ1

NM_000218.3:p.F232C

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

Probing the Dynamics and Structural Topology of the Reconstituted Human KCNQ1 Voltage Sensor Domain (Q1-VSD) in Lipid Bilayers Using Electron Paramagnetic Resonance Spectroscopy.

Dixit G et al.

Biochemistry, 2019

Gating modulation of the KCNQ1 channel by KCNE proteins studied by voltage-clamp fluorometry.

Nakajo K

Biophysics and Physicobiology, 2019

Steric hindrance between S4 and S5 of the KCNQ1/KCNE1 channel hampers pore opening.

Nakajo K et al.

Nature Communications, 2014

KCNE peptides differently affect voltage sensor equilibrium and equilibration rates in KCNQ1 K+ channels.

Rocheleau JM et al.

The Journal of General Physiology, 2008

KCNE1 and KCNE3 stabilize and/or slow voltage sensing S4 segment of KCNQ1 channel.

Nakajo K et al.

The Journal of General Physiology, 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."