Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.G417R
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TMC1

NM_138691.3:p.G417R

Associated Papers

Mechano-electrical transduction components TMC1-CIB2 undergo a Ca2+-induced conformational change linked to hearing loss.

Wu S et al.

Developmental Cell, 2025

Identification of druggable binding sites and small molecules as modulators of TMC1.

De-la-Torre P et al.

Communications Biology, 2025

40360848 (PubMed )
Supplement: 42003_2025_7943_MOESM5_ESM.pdf

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

Searching for the Molecular Basis of Partial Deafness.

Oziębło D et al.

International Journal of Molecular Sciences, 2022

Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss.

Nishio SY et al.

Human Genetics, 2022

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

Deafness mutation D572N of TMC1 destabilizes TMC1 expression by disrupting LHFPL5 binding.

Yu X et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.

Ramzan K et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2020

Compound Heterozygous Mutations in TMC1 and MYO15A Are Associated with Autosomal Recessive Nonsyndromic Hearing Loss in Two Chinese Han Families.

Xu P et al.

Neural Plasticity, 2020

A Tmc1 mutation reduces calcium permeability and expression of mechanoelectrical transduction channels in cochlear hair cells.

Beurg M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

Structural relationship between the putative hair cell mechanotransduction channel TMC1 and TMEM16 proteins.

Ballesteros A et al.

Elife, 2018

30063209 (PubMed )
Supplement: elife-38433-fig4-data1.xlsx › Sheet1

Identification of four TMC1 variations in different Chinese families with hereditary hearing loss.

Wang H et al.

Molecular Genetics & Genomic Medicine, 2018

Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss.

Gao X et al.

American Journal of Medical Genetics. Part A, 2015

Transmembrane channel-like (TMC) genes are required for auditory and vestibular mechanosensation.

Kawashima Y et al.

Pflugers Archiv : European Journal of Physiology, 2015

Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction.

Nakanishi H et al.

Auris, Nasus, Larynx, 2014

TMC function in hair cell transduction.

Holt JR et al.

Hearing Research, 2014

A novel DFNA36 mutation in TMC1 orthologous to the Beethoven (Bth) mouse associated with autosomal dominant hearing loss in a Chinese family.

Zhao Y et al.

Plos One, 2014

TMC1 and TMC2 are components of the mechanotransduction channel in hair cells of the mammalian inner ear.

Pan B et al.

Neuron, 2013

A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus.

Yang T et al.

Clinical Genetics, 2010

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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."