Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.R14C
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KCNQ1

NM_000218.3:p.R14C

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

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

Marcoux E et al.

Circulation. Arrhythmia and Electrophysiology, 2023

Atrial fibrillation-a complex polygenetic disease.

Andersen JH et al.

European Journal of Human Genetics : Ejhg, 2021

33279945 (PubMed )
Supplement: 41431_2020_784_MOESM3_ESM.xlsx › Sheet1

Genotype influence in responses to therapy for atrial fibrillation.

Huang H et al.

Expert Review of Cardiovascular Therapy, 2016

KCNA5 gene polymorphism associate with idiopathic atrial fibrillation.

Tian L et al.

International Journal of Clinical and Experimental Medicine, 2015

Atrial fibrillation: the role of common and rare genetic variants.

Olesen MS et al.

European Journal of Human Genetics : Ejhg, 2014

Genetic mechanisms of atrial fibrillation: impact on response to treatment.

Darbar D et al.

Nature Reviews. Cardiology, 2013

Epistatic effects of potassium channel variation on cardiac repolarization and atrial fibrillation risk.

Mann SA et al.

Journal of the American College of Cardiology, 2012

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

Genetics and cardiac channelopathies.

Campuzano O et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010

Genetics of atrial fibrillation.

Lubitz SA et al.

Heart Failure Clinics, 2010

Comprehensive mutation scanning of KCNQ1 in 111 Han Chinese patients with lone atrial fibrillation.

Chen LY et al.

Heart Asia, 2010

Genetics of familial atrial fibrillation.

Campuzano O et al.

Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2009

Genetics of atrial fibrillation.

Lubitz SA et al.

Cardiology Clinics, 2009

Molecular genetics of atrial fibrillation.

Tsai CT et al.

Journal of the American College of Cardiology, 2008

Atrial fibrillation: evidence for genetically determined disease.

Andalib A et al.

Current Opinion in Cardiology, 2008

Stretch-sensitive KCNQ1 mutation A link between genetic and environmental factors in the pathogenesis of atrial fibrillation?

Otway R et al.

Journal of the American College of Cardiology, 2007

Impaired stretch modulation in potentially lethal cardiac sodium channel mutants.

Banderali U et al.

Channels (austin, Tex.), 0

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."