Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.K422T
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KCNQ1

NM_000218.3:p.K422T

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

Disruption of a Conservative Motif in the C-Terminal Loop of the KCNQ1 Channel Causes LQT Syndrome.

Karlova M et al.

International Journal of Molecular Sciences, 2022

The membrane protein KCNQ1 potassium ion channel: Functional diversity and current structural insights.

Dixit G et al.

Biochimica Et Biophysica Acta. Biomembranes, 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

Molecular pathogenesis of long QT syndrome type 1.

Wu J et al.

Journal of Arrhythmia, 2016

Slow delayed rectifier potassium current blockade contributes importantly to drug-induced long QT syndrome.

Veerman CC et al.

Circulation. Arrhythmia and Electrophysiology, 2013

Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner.

Amin AS et al.

European Heart Journal, 2012

22199116 (PubMed )
Supplement: supp_ehr473_ehr473supp.doc
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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."