Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.S668R
Back to variants list

TMC1

NM_138691.3:p.S668R

Associated Papers

Molecular Determinants of TMC Protein Biogenesis and Trafficking.

Shao D et al.

International Journal of Molecular Sciences, 2025

Recurrent and Novel Pathogenic Variants in Genes Involved with Hearing Loss in the Pakistani Population.

Shadab M et al.

Molecular Diagnosis & Therapy, 2025

Heterozygous variants in transmembrane channel-like 1 gene cause autosomal recessive nonsyndromic hearing loss.

Zhang L et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2024

A novel splicing variant in the TMC1 gene causes non-syndromic hearing loss in a Chinese family.

Zeng B et al.

Chinese Medical Journal, 2022

Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss.

Zardadi S et al.

Molecular Genetics & Genomic Medicine, 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

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

Wang H et al.

Molecular Genetics & Genomic Medicine, 2018

Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing loss.

Hu J et al.

Journal of Translational Medicine, 2016

A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family.

Bakhchane A et al.

Gene, 2015

The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations.

Yan D et al.

Genetic Testing and Molecular Biomarkers, 2015

Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction.

Nakanishi H et al.

Auris, Nasus, Larynx, 2014

Novel compound heterozygous TMC1 mutations associated with autosomal recessive hearing loss in a Chinese family.

Gao X et al.

Plos One, 2013

Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1.

de Heer AM et al.

Audiology & Neuro-otology, 2011

Mutations in TMC1 contribute significantly to nonsyndromic autosomal recessive sensorineural hearing loss: a report of five novel mutations.

Sirmaci A et al.

International Journal of Pediatric Otorhinolaryngology, 2009

Identities, frequencies and origins of TMC1 mutations causing DFNB7/B11 deafness in Pakistan.

Kitajiri SI et al.

Clinical Genetics, 2007

Novel sequence variants in the TMC1 gene in Pakistani families with autosomal recessive hearing impairment.

Santos RL et al.

Human Mutation, 2005

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."