Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.F340C
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KCNQ1

NM_000218.3:p.F340C

Associated Papers

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

Mutation location and IKs regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 region.

Schwartz PJ et al.

European Heart Journal, 2021

Enhanced effects of isoflurane on the long QT syndrome 1-associated A341V mutant.

Mikuni I et al.

Anesthesiology, 2015

Building KCNQ1/KCNE1 channel models and probing their interactions by molecular-dynamics simulations.

Xu Y et al.

Biophysical Journal, 2013

Distinct subdomains of the KCNQ1 S6 segment determine channel modulation by different KCNE subunits.

Vanoye CG et al.

The Journal of General Physiology, 2009

KCNE1 binds to the KCNQ1 pore to regulate potassium channel activity.

Melman YF et al.

Neuron, 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."