Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.A8V
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KCNE1

NM_000219.6:p.A8V

Associated Papers

Functional Profiling of KCNE1 Variants Informs Population Carrier Frequency of Jervell and Lange-Nielsen Syndrome Type 2.

Vanoye CG et al.

Circulation. Genomic and Precision Medicine, 2025

Functional profiling of KCNE1 variants informs population carrier frequency of Jervell and Lange-Nielsen syndrome type 2.

Vanoye CG et al.

Biorxiv : the Preprint Server for Biology, 2025

High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.

Muhammad A et al.

Genome Medicine, 2024

38816749 (PubMed )
Supplement: 13073_2024_1340_MOESM2_ESM.xlsx › LitReview

Fetal Heart Rate < 3rd Percentile for Gestational Age Can Be a Marker of Inherited Arrhythmia Syndromes.

Chaudhry-Waterman N et al.

Journal of Clinical Medicine, 2023

Genetic Susceptibility Study of Chinese Sudden Sensorineural Hearing Loss Patients with Vertigo.

Gao Y et al.

Current Medical Science, 2021

An International Multicenter Evaluation of Type 5 Long QT Syndrome: A Low Penetrant Primary Arrhythmic Condition.

Roberts JD et al.

Circulation, 2020

Reclassification of Variants of Uncertain Significance in Children with Inherited Arrhythmia Syndromes is Predicted by Clinical Factors.

Bennett JS et al.

Pediatric Cardiology, 2019

Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward Syndrome.

Faridi R et al.

Human Mutation, 2019

Long QT Syndrome and Sinus Bradycardia-A Mini Review.

Wilders R et al.

Frontiers in Cardiovascular Medicine, 2018

Contribution of exome sequencing for genetic diagnostic in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

Fedida J et al.

Plos One, 2017

28767663 (PubMed )
Supplement: pone.0181840.s008.xlsx › Feuil1

KCNE1 and KCNE3: The yin and yang of voltage-gated K(+) channel regulation.

Abbott GW

Gene, 2016

Drug-induced Inhibition and Trafficking Disruption of ion Channels: Pathogenesis of QT Abnormalities and Drug-induced Fatal Arrhythmias.

Cubeddu LX

Current Cardiology Reviews, 2016

A novel genetic modifier for clarithromycin-related cardiac arrhythmia risk?

Hancox JC et al.

Therapeutic Advances in Infectious Disease, 2014

Arrhythmogenic KCNE gene variants: current knowledge and future challenges.

Crump SM et al.

Frontiers in Genetics, 2014

24478792 (PubMed )
Supplement: DataSheet1.DOCX

Modification of KCNH2-encoded cardiac potassium channels by KCNE1 polymorphism.

Hancox JC et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2014

Modification of KCNH2-encoded cardiac potassium channels by KCNE1 polymorphism.

Tabata T et al.

Circulation Journal : Official Journal of the Japanese Circulation Society, 2014

Modification by KCNE1 variants of the hERG potassium channel response to premature stimulation and to pharmacological inhibition.

Du C et al.

Physiological Reports, 2013

An Examination of KCNE1 Mutations and Common Variants in Chronic Tinnitus.

Sand PG et al.

Genes, 2010

The genetic basis of long QT and short QT syndromes: a mutation update.

Hedley PL et al.

Human Mutation, 2009

D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome.

Nishio Y et al.

Journal of the American College of Cardiology, 2009

N- and C-terminal KCNE1 mutations cause distinct phenotypes of long QT syndrome.

Ohno S et al.

Heart Rhythm, 2007

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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."