Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ1
Variant:p.Q234E
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KCNQ1

NM_000218.3:p.Q234E

Associated Papers

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

Structure and physiological function of the human KCNQ1 channel voltage sensor intermediate state.

Taylor KC et al.

Elife, 2020

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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."