Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.K598R
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KCNQ1

NM_000218.3:p.K598R

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

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

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

Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.

Ioakeimidis NS et al.

Journal of Biological Research (thessalonike, Greece), 2017

A Common Mutation of Long QT Syndrome Type 1 in Japan.

Itoh H et al.

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

Nonsense-mediated mRNA decay due to a CACNA1C splicing mutation in a patient with Brugada syndrome.

Fukuyama M et al.

Heart Rhythm, 2014

Cardiac ion channelopathies and the sudden infant death syndrome.

Wilders R

Isrn Cardiology, 2012

Cardiac channelopathies and sudden infant death syndrome.

Tfelt-Hansen J et al.

Cardiology, 2011

Cardiac ion channel gene mutations in sudden infant death syndrome.

Otagiri T et al.

Pediatric Research, 2008

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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."