Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.G272V
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KCNQ1

NM_000218.3:p.G272V

Associated Papers

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

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

Willegems K et al.

Nature Communications, 2022

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

A computational analysis of the effect of sevoflurane in a human ventricular cell model of long QT syndrome: Importance of repolarization reserve in the QT-prolonging effect of sevoflurane.

Kojima A et al.

European Journal of Pharmacology, 2020

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

Brewer KR et al.

Frontiers in Pharmacology, 2020

Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients.

Shimizu W et al.

Jama Cardiology, 2019

Acquired Long-QT Syndrome: Mild but Abnormal?

Kashiwa A et al.

Internal Medicine (tokyo, Japan), 2018

Genetic basis of cardiomyopathy and the genotypes involved in prognosis and left ventricular reverse remodeling.

Tobita T et al.

Scientific Reports, 2018

29386531 (PubMed )
Supplement: 41598_2018_20114_MOESM1_ESM.pdf

Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.

Ruklisa D et al.

Genome Medicine, 2015

25649125 (PubMed )
Supplement: 13073_2014_120_MOESM1_ESM.pdf

Unveiling specific triggers and precipitating factors for fatal cardiac events in inherited arrhythmia syndromes.

Nakajima T et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2015

Gene mutations associated with atrioventricular block complicated by long QT syndrome.

Nishizaki M et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2010

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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."