Varaico: Literature-Extracted Genetic Variants

Gene:KCNE1
Variant:p.G60D
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KCNE1

NM_000219.6:p.G60D

Associated Papers

Common Methylenetetrahydrofolate Reductase Polymorphism MTHFR 677C>T (rs1801133), Plasma Homocysteine, and Non-Valvular Atrial Fibrillation in Overweight/Obese Patients: Causality Indicated by Mediation and One-Sample Mendelian Randomization Analysis.

Levicki R et al.

Diagnostics (basel, Switzerland), 2025

Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.

Tarnovskaya SI et al.

International Journal of Molecular Sciences, 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

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

Muhammad A et al.

Biorxiv : the Preprint Server for Biology, 2023

Genetic predictors of sick sinus syndrome.

Timasheva Y et al.

Molecular Biology Reports, 2021

A computational model of induced pluripotent stem-cell derived cardiomyocytes for high throughput risk stratification of KCNQ1 genetic variants.

Kernik DC et al.

Plos Computational Biology, 2020

Gain-of-function mutation in the voltage-gated potassium channel gene KCNQ1 and glucose-stimulated hypoinsulinemia - case report.

Zhang J et al.

Bmc Endocrine Disorders, 2020

Mutations of Voltage-Gated Ionic Channels and Risk of Severe Cardiac Arrhythmias.

Dehghani-Samani A et al.

Acta Cardiologica Sinica, 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

Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea.

Son MJ et al.

Journal of Korean Medical Science, 2018

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

Abbott GW

Gene, 2016

Very early-onset lone atrial fibrillation patients have a high prevalence of rare variants in genes previously associated with atrial fibrillation.

Olesen MS et al.

Heart Rhythm, 2014

Arrhythmogenic KCNE gene variants: current knowledge and future challenges.

Crump SM et al.

Frontiers in Genetics, 2014

24478792 (PubMed )
Supplement: DataSheet1.DOCX

Mutations in the potassium channel subunit KCNE1 are associated with early-onset familial atrial fibrillation.

Olesen MS et al.

Bmc Medical Genetics, 2012

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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."