Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.G314A
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KCNQ1

NM_000218.3:p.G314A

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

Cell death-inducing cytotoxicity in truncated KCNQ4 variants associated with DFNA2 hearing loss.

Kojima T et al.

Disease Models & Mechanisms, 2021

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

A novel mutation KCNQ1p.Thr312del is responsible for long QT syndrome type 1.

Chen XM et al.

Heart and Vessels, 2019

Allosteric features of KCNQ1 gating revealed by alanine scanning mutagenesis.

Ma LJ et al.

Biophysical Journal, 2011

Additional gene variants reduce effectiveness of beta-blockers in the LQT1 form of long QT syndrome.

Kobori A et al.

Journal of Cardiovascular Electrophysiology, 2004

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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."