Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ4
Variant:p.R216H
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KCNQ4

NM_004700.4:p.R216H

Associated Papers

Two-step voltage-sensor activation of the human KV7.4 channel and effect of a deafness-associated mutation.

Nappi M et al.

Nature Communications, 2026

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_D

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."