Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.T312S
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KCNQ1

NM_000218.3:p.T312S

Associated Papers

Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.

Tarnovskaya SI et al.

International Journal of Molecular Sciences, 2025

PUFA stabilizes a conductive state of the selectivity filter in IKs channels.

Golluscio A et al.

Elife, 2024

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

Targeting KNa1.1 channels in KCNT1-associated epilepsy.

Cole BA et al.

Trends in Pharmacological Sciences, 2021

Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Brewer KR et al.

Frontiers in Pharmacology, 2020

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

Villatoro-Gómez K et al.

Biochemical Pharmacology, 2018

KCNE1 induces fenestration in the Kv7.1/KCNE1 channel complex that allows for highly specific pharmacological targeting.

Wrobel E et al.

Nature Communications, 2016

Ginsenoside Rg3 activates human KCNQ1 K+ channel currents through interacting with the K318 and V319 residues: a role of KCNE1 subunit.

Choi SH et al.

European Journal of Pharmacology, 2010

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

Molecular determinants of KCNQ1 channel block by a benzodiazepine.

Seebohm G et al.

Molecular Pharmacology, 2003

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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."