Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ4
Variant:p.S273A
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KCNQ4

NM_004700.4:p.S273A

Associated Papers

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_Table_S5.xlsx › Supplemental_Table_S5

Subtype-specific responses of hKv7.4 and hKv7.5 channels to polyunsaturated fatty acids reveal an unconventional modulatory site and mechanism.

Frampton DJA et al.

Elife, 2022

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

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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."