Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.V241F
Back to variants list

KCNQ1

NM_000218.3:p.V241F

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

40724807 (PubMed )
Supplement: ijms-26-06561-s001.zip › ijms-3705358_SupplementaryTable2.xls › SupplementaryTable2

Spectrum of DNA variants for patients with hearing loss in 4 language families of 15 ethnicities from Southwestern China.

Li J et al.

Heliyon, 2024

39640791 (PubMed )
Supplement: mmc1.xlsx › Unsolved__patients

Genetic Atrial Cardiomyopathies: Common Features, Specific Differences, and Broader Relevance to Understanding Atrial Cardiomyopathy.

Marcoux E et al.

Circulation. Arrhythmia and Electrophysiology, 2023

Human Sinoatrial Node Pacemaker Activity: Role of the Slow Component of the Delayed Rectifier K+ Current, IKs.

Verkerk AO et al.

International Journal of Molecular Sciences, 2023

Arrhythmogenic Effects of Genetic Mutations Affecting Potassium Channels in Human Atrial Fibrillation: A Simulation Study.

Belletti R et al.

Frontiers in Physiology, 2021

Proarrhythmogenic Effect of the L532P and N588K KCNH2 Mutations in the Human Heart Using a 3D Electrophysiological Model.

Heikhmakhtiar AK et al.

Journal of Korean Medical Science, 2020

Computational prediction of the effect of D172N KCNJ2 mutation on ventricular pumping during sinus rhythm and reentry.

Heikhmakhtiar AK et al.

Medical & Biological Engineering & Computing, 2020

Computational Study to Identify the Effects of the KCNJ2 E299V Mutation in Cardiac Pumping Capacity.

Jeong DU et al.

Computational and Mathematical Methods in Medicine, 2020

Investigating the Complex Arrhythmic Phenotype Caused by the Gain-of-Function Mutation KCNQ1-G229D.

Zhou X et al.

Frontiers in Physiology, 2019

Effect of KCNQ1 G229D mutation on cardiac pumping efficacy and reentrant dynamics in ventricles: Computational study.

Yuniarti AR et al.

International Journal for Numerical Methods in Biomedical Engineering, 2018

Computational simulations of the effects of the G229D KCNQ1 mutation on human atrial fibrillation.

Zulfa I et al.

The Journal of Physiological Sciences : Jps, 2016

Cardiac Delayed Rectifier Potassium Channels in Health and Disease.

Chen L et al.

Cardiac Electrophysiology Clinics, 2016

Computational prediction of proarrhythmogenic effect of the V241F KCNQ1 mutation in human atrium.

Imaniastuti R et al.

Progress in Biophysics and Molecular Biology, 2014

Recent molecular insights from mutated IKS channels in cardiac arrhythmia.

Dvir M et al.

Current Opinion in Pharmacology, 2014

A KCNQ1 mutation causes age-dependant bradycardia and persistent atrial fibrillation.

Ki CS et al.

Pflugers Archiv : European Journal of Physiology, 2014

Disease-linked supertrafficking of a potassium channel.

Huang H et al.

The Journal of Biological Chemistry, 0

33600800 (PubMed )
Supplement: mmc1.pdf
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."