Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.V310L
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KCNQ1

NM_000218.3:p.V310L

Associated Papers

KCNQ1 is an essential mediator of the sex-dependent perception of moderate cold temperatures.

Kiper AK et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

Refinement of the binding site and mode of action of the anticonvulsant Retigabine on KCNQ K+ channels.

Lange W et al.

Molecular Pharmacology, 2009

Chromanol 293B binding in KCNQ1 (Kv7.1) channels involves electrostatic interactions with a potassium ion in the selectivity filter.

Lerche C et al.

Molecular Pharmacology, 2007

Mutation of colocalized residues of the pore helix and transmembrane segments S5 and S6 disrupt deactivation and modify inactivation of KCNQ1 K+ channels.

Seebohm G et al.

The Journal of Physiology, 2005

Molecular determinants of KCNQ1 channel block by a benzodiazepine.

Seebohm G et al.

Molecular Pharmacology, 2003

Identification of specific pore residues mediating KCNQ1 inactivation. A novel mechanism for long QT syndrome.

Seebohm G et al.

The Journal of Biological Chemistry, 2001

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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."