Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.S338F
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KCNQ1

NM_000218.3:p.S338F

Associated Papers

PIP2 activation of the cardiac IKs potassium channel.

Cui J et al.

Research Square, 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

Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.

Vashisht S et al.

Bmc Genomics, 2025

39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq

The fully activated open state of KCNQ1 controls the cardiac "fight-or-flight" response.

Hou P et al.

Pnas Nexus, 2024

Targeting the IKs Channel PKA Phosphorylation Axis to Restore Its Function in High-Risk LQT1 Variants.

Zhong L et al.

Circulation Research, 2024

The fully activated open state of KCNQ1 controls the cardiac "fight-or-flight" response.

Hou P et al.

Biorxiv : the Preprint Server for Biology, 2024

Electro-mechanical coupling of KCNQ channels is a target of epilepsy-associated mutations and retigabine.

Yang ND et al.

Science Advances, 2022

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

Willegems K et al.

Nature Communications, 2022

ML277 regulates KCNQ1 single-channel amplitudes and kinetics, modified by voltage sensor state.

Eldstrom J et al.

The Journal of General Physiology, 2021

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

32893267 (PubMed )
Supplement: 41436_2020_946_MOESM2_ESM.xlsx › S12

Calmodulin acts as a state-dependent switch to control a cardiac potassium channel opening.

Kang PW et al.

Science Advances, 2020

A unique mechanism of inactivation gating of the Kv channel family member Kv7.1 and its modulation by PIP2 and calmodulin.

Lipinsky M et al.

Science Advances, 2020

Two-stage electro-mechanical coupling of a KV channel in voltage-dependent activation.

Hou P et al.

Nature Communications, 2020

Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Brewer KR et al.

Frontiers in Pharmacology, 2020

Gating and Regulation of KCNQ1 and KCNQ1 + KCNE1 Channel Complexes.

Wang Y et al.

Frontiers in Physiology, 2020

ML277 specifically enhances the fully activated open state of KCNQ1 by modulating VSD-pore coupling.

Hou P et al.

Elife, 2019

Long QT Syndrome and Sinus Bradycardia-A Mini Review.

Wilders R et al.

Frontiers in Cardiovascular Medicine, 2018

30123799 (PubMed )
Supplement: Data_Sheet_1.PDF

Inactivation of KCNQ1 potassium channels reveals dynamic coupling between voltage sensing and pore opening.

Hou P et al.

Nature Communications, 2017

Dysfunctional potassium channel subunit interaction as a novel mechanism of long QT syndrome.

Hoosien M et al.

Heart Rhythm, 2013

Ion channel complex disease in long QT syndrome.

Morita H

Heart Rhythm, 2013

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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."