Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.Q147R
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KCNQ1

NM_000218.3:p.Q147R

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

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

Atrial fibrillation-a complex polygenetic disease.

Andersen JH et al.

European Journal of Human Genetics : Ejhg, 2021

33279945 (PubMed )
Supplement: 41431_2020_784_MOESM1_ESM.docx

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

Belletti R et al.

Frontiers in Physiology, 2021

Functional phenotype variations of two novel KV 7.1 mutations identified in patients with Long QT syndrome.

Hammami Bomholtz S et al.

Pacing and Clinical Electrophysiology : Pace, 2020

Impaired Adrenergic/Protein Kinase A Response of Slow Delayed Rectifier Potassium Channels as a Long QT Syndrome Motif: Importance and Unknowns.

Policarová M et al.

The Canadian Journal of Cardiology, 2019

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

Zhou X et al.

Frontiers in Physiology, 2019

Human Atrial Arrhythmogenesis and Sinus Bradycardia in KCNQ1-Linked Short QT Syndrome: Insights From Computational Modelling.

Whittaker DG et al.

Frontiers in Physiology, 2018

Predicting the Functional Impact of KCNQ1 Variants of Unknown Significance.

Li B et al.

Circulation. Cardiovascular Genetics, 2017

Cardiac Delayed Rectifier Potassium Channels in Health and Disease.

Chen L et al.

Cardiac Electrophysiology Clinics, 2016

Genetics of atrial fibrillation: from families to genomes.

Christophersen IE et al.

Journal of Human Genetics, 2016

Syncope and cardiac arrest during strenuous exercise associated with a novel mutation in LQTS1.

Sandhu A et al.

Clinical Case Reports, 2015

Characterization of a Chinese KCNQ1 mutation (R259H) that shortens repolarization and causes short QT syndrome 2.

Wu ZJ et al.

Journal of Geriatric Cardiology : Jgc, 2015

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

A KCNQ1 mutation causes a high penetrance for familial atrial fibrillation.

Bartos DC et al.

Journal of Cardiovascular Electrophysiology, 2013

[KCNQ1 mutation in patients with lone atrial fibrillation].

Feng MJ et al.

Zhonghua Xin Xue Guan Bing Za Zhi, 2013

Polymorphisms but not mutations of the KCNQ1 gene are associated with lone atrial fibrillation in the Chinese Han population.

Chu HM et al.

Thescientificworldjournal, 2013

Characterization of KCNQ1 atrial fibrillation mutations reveals distinct dependence on KCNE1.

Chan PJ et al.

The Journal of General Physiology, 2012

Regulation of Voltage-Activated K(+) Channel Gating by Transmembrane β Subunits.

Sun X et al.

Frontiers in Pharmacology, 2012

Overlapping cardiac phenotype associated with a familial mutation in the voltage sensor of the KCNQ1 channel.

Henrion U et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2012

The voltage-gated channel accessory protein KCNE2: multiple ion channel partners, multiple ways to long QT syndrome.

Eldstrom J et al.

Expert Reviews in Molecular Medicine, 2011

Extracellular potassium inhibits Kv7.1 potassium channels by stabilizing an inactivated state.

Larsen AP et al.

Biophysical Journal, 2011

Gating-related molecular motions in the extracellular domain of the IKs channel: implications for IKs channelopathy.

Wang YH et al.

The Journal of Membrane Biology, 2011

The S140G KCNQ1 atrial fibrillation mutation affects 'I(KS)' profile during both atrial and ventricular action potentials.

El Harchi A et al.

Journal of Physiology and Pharmacology : an Official Journal of the Polish Physiological Society, 2010

Structural basis for K(V)7.1-KCNE(x) interactions in the I(Ks) channel complex.

Lundby A et al.

Heart Rhythm, 2010

The phenotype of a KCNQ1 mutation depends on its KCNE partners: is the cardiac slow delayed rectifier (IKs) channel more than a KCNQ1/KCNE1 complex?

Tseng GN

Heart Rhythm, 2007

KCNQ1 mutation Q147R is associated with atrial fibrillation and prolonged QT interval.

Lundby A et al.

Heart Rhythm, 2007

In silico investigation of a KCNQ1 mutation associated with familial atrial fibrillation.

Hancox JC et al.

Journal of Electrocardiology, 0

Disease-linked supertrafficking of a potassium channel.

Huang H et al.

The Journal of Biological Chemistry, 0

33600800 (PubMed )
Supplement: mmc1.pdf
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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."