Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.Q234R
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KCNQ1

NM_000218.3:p.Q234R

Associated Papers

Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.

Tarnovskaya SI et al.

International Journal of Molecular Sciences, 2025

Novel KCNQ1 Q234K variant, identified in patients with long QT syndrome and epileptiform activity, induces both gain- and loss-of-function of slowly activating delayed rectifier potassium currents.

Nakajima T et al.

Frontiers in Physiology, 2024

Mechanistic insights into robust cardiac IKs potassium channel activation by aromatic polyunsaturated fatty acid analogues.

Bohannon BM et al.

Elife, 2023

Mechanistic insights into robust cardiac I Ks potassium channel activation by aromatic polyunsaturated fatty acid analogues.

Bohannon BM et al.

Biorxiv : the Preprint Server for Biology, 2023

Polyunsaturated fatty acids produce a range of activators for heterogeneous IKs channel dysfunction.

Bohannon BM et al.

The Journal of General Physiology, 2020

Voltage-Dependent Gating: Novel Insights from KCNQ1 Channels.

Cui J

Biophysical Journal, 2016

A shared mechanism for lipid- and beta-subunit-coordinated stabilization of the activated K+ channel voltage sensor.

Choi E et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2010

The role of S4 charges in voltage-dependent and voltage-independent KCNQ1 potassium channel complexes.

Panaghie G et al.

The Journal of General Physiology, 2007

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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."