Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.T422K
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TMC1

NM_138691.3:p.T422K

Associated Papers

Identification and characterization of a novel p. S390C variant in TMC1 in an autosomal recessive family with non-syndromic hearing loss.

Dong H et al.

Acta Oto-laryngologica, 2026

Human TMC1 and TMC2 are mechanically gated ion channels.

Fu S et al.

Neuron, 2025

Novel autosomal dominant TMC1 variants linked to hearing loss: insight into protein-lipid interactions.

Cho SH et al.

Bmc Medical Genomics, 2023

Mechanoelectrical transduction-related genetic forms of hearing loss.

Jung J et al.

Current Opinion in Physiology, 2023

New Tmc1 Deafness Mutations Impact Mechanotransduction in Auditory Hair Cells.

Beurg M et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2021

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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."