Varaico: Literature-Extracted Genetic Variants

Gene:TMC1
Variant:p.S596R
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TMC1

NM_138691.3:p.S596R

Associated Papers

Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review.

Ayoub C et al.

Human Genomics, 2025

41430327 (PubMed )
Supplement: 40246_2025_891_MOESM1_ESM.xlsx › Supplementary_Table_S2.

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

Functional consequences of Genetics variant in TMC1 and TMC2 within a United Arab Emirates family with Pre-lingual hearing loss.

Al Mutery A et al.

Saudi Journal of Biological Sciences, 2023

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

Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.

Richard EM et al.

Human Mutation, 2019

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

Ballesteros A et al.

Elife, 2018

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

Wang H et al.

Molecular Genetics & Genomic Medicine, 2018

Recessive mutations of TMC1 associated with moderate to severe hearing loss.

Imtiaz A et al.

Neurogenetics, 2016

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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."