Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ4
Variant:p.D266Y
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KCNQ4

NM_004700.4:p.D266Y

Associated Papers

Pathogenic Mechanism of the KCNQ4 Gene Variant in Hearing Loss and Functional Validation in a Zebrafish Model.

Jia H et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025

A KCNQ4 Gene Variant (c.701A > G; p.His234Arg) in a Chinese Family With Nonsyndromic Deafness 2A.

Gong GQ et al.

Molecular Genetics & Genomic Medicine, 2025

Characterization of Vestibular Phenotypes in Patients with Genetic Hearing Loss.

Han JH et al.

Journal of Clinical Medicine, 2024

38610765 (PubMed )
Supplement: jcm-13-02001-s001.zip › jcm-2913174-supplementary.xlsx › Supplement_Table_S2

Overlooked KCNQ4 variants augment the risk of hearing loss.

Oh KS et al.

Experimental & Molecular Medicine, 2023

The Pathological Mechanisms of Hearing Loss Caused by KCNQ1 and KCNQ4 Variants.

Homma K

Biomedicines, 2022

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_C

A humanized murine model, demonstrating dominant progressive hearing loss caused by a novel KCNQ4 mutation (p.G228D) from a large Chinese family.

Cui C et al.

Clinical Genetics, 2022

Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation.

Rim JH et al.

Human Genetics, 2022

34519870 (PubMed )
Supplement: 439_2021_2367_MOESM1_ESM.pdf

Rare KCNQ4 variants found in public databases underlie impaired channel activity that may contribute to hearing impairment.

Jung J et al.

Experimental & Molecular Medicine, 2019

Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss.

Jung J et al.

Scientific Reports, 2018

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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."