Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ4
Variant:p.W242L
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KCNQ4

NM_004700.4:p.W242L

Associated Papers

Overlooked KCNQ4 variants augment the risk of hearing loss.

Oh KS et al.

Experimental & Molecular Medicine, 2023

Proactive functional classification of all possible missense single-nucleotide variants in KCNQ4.

Zheng H et al.

Genome Research, 2022

35760561 (PubMed )
Supplement: supp_gr.276562.122_Supplemental_Dataset.xlsx › Supplemental_Dataset_E

Structural insights into the lipid and ligand regulation of a human neuronal KCNQ channel.

Zheng Y et al.

Neuron, 2022

In vitro and in vivo characterization of Lu AA41178: A novel, brain penetrant, pan-selective Kv7 potassium channel opener with efficacy in preclinical models of epileptic seizures and psychiatric disorders.

Grupe M et al.

European Journal of Pharmacology, 2020

The acrylamide (S)-2 as a positive and negative modulator of Kv7 channels expressed in Xenopus laevis oocytes.

Blom SM et al.

Plos One, 2009

Molecular determinants of KCNQ (Kv7) K+ channel sensitivity to the anticonvulsant retigabine.

Schenzer A et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2005

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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."