Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.I313V
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KCNQ1

NM_000218.3:p.I313V

Associated Papers

Molecular determinants of Kv7.1/KCNE1 channel inhibition by amitriptyline.

Villatoro-Gómez K et al.

Biochemical Pharmacology, 2018

High-risk long QT syndrome mutations in the Kv7.1 (KCNQ1) pore disrupt the molecular basis for rapid K(+) permeation.

Burgess DE et al.

Biochemistry, 2012

Evaluation of channel function after alteration of amino acid residues at the pore center of KCNQ1 channel.

Ikrar T et al.

Biochemical and Biophysical Research Communications, 2009

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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."