Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.F279C
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KCNQ1

NM_000218.3:p.F279C

Associated Papers

Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.

Tarnovskaya SI et al.

International Journal of Molecular Sciences, 2025

Impacts of gene variants on drug effects-the foundation of genotype-guided pharmacologic therapy for long QT syndrome and short QT syndrome.

Zhao Z et al.

Ebiomedicine, 2024

Pro-arrhythmic effects of gain-of-function potassium channel mutations in the short QT syndrome.

Hancox JC et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2023

A novel variant in KCNQ1 associated with short QT syndrome.

Schneider K et al.

Heartrhythm Case Reports, 2021

Steric hindrance between S4 and S5 of the KCNQ1/KCNE1 channel hampers pore opening.

Nakajo K et al.

Nature Communications, 2014

Congenital short QT syndrome: A review focused on electrocardiographic features.

Pérez-Riera AR et al.

Journal of Electrocardiology, 0

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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."