Varaico: Literature-Extracted Genetic Variants

Gene:GJB2
Variant:p.V167M
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GJB2

NM_004004.6:p.V167M

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.

Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants.

Mao L et al.

Biology, 2023

37106706 (PubMed )
Supplement: biology-12-00505-s001.zip › biology-2074814-supplementary.xlsx › Table_S1

Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.

Riza AL et al.

Genes, 2022

36672810 (PubMed )
Supplement: genes-14-00069-s001.zip › genes-2004703-supplementary.pdf

Hearing loss in Africa: current genetic profile.

Adadey SM et al.

Human Genetics, 2022

Hearing Impairment Overview in Africa: the Case of Cameroon.

Wonkam Tingang E et al.

Genes, 2020

GJB2 and GJB6 Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon.

Tingang Wonkam E et al.

Genes, 2019

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.

Azaiez H et al.

American Journal of Human Genetics, 2018

30245029 (PubMed )
Supplement: mmc2.xlsx › Table_S3

The genetic basis of deafness in populations of African descent.

Rudman JR et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2017

Prevalence of GJB2 gene mutation in 330 cochlear implant patients in the Jiangsu province.

Shi L et al.

The Journal of Laryngology and Otology, 2016

Genetic Basis of Nonsyndromic Sensorineural Hearing Loss in the Sub-Saharan African Island Population of São Tomé and Príncipe: The Role of the DFNB1 Locus?

Caroça C et al.

Omics : a Journal of Integrative Biology, 2016

Bioinformatic Analysis of GJB2 Gene Missense Mutations.

Yilmaz A

Cell Biochemistry and Biophysics, 2015

Sequencing of GJB2 in Cameroonians and Black South Africans and comparison to 1000 Genomes Project Data Support Need to Revise Strategy for Discovery of Nonsyndromic Deafness Genes in Africans.

Bosch J et al.

Omics : a Journal of Integrative Biology, 2014

Prevalence and range of GJB2 and SLC26A4 mutations in patients with autosomal recessive non‑syndromic hearing loss.

Jiang H et al.

Molecular Medicine Reports, 2014

Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han.

Li Q et al.

Chinese Medical Journal, 2014

Deafness in the genomics era.

Shearer AE et al.

Hearing Research, 2011

Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population.

Kabahuma RI et al.

International Journal of Pediatric Otorhinolaryngology, 2011

A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.

Putcha GV et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2007

GJB2 and GJB6 mutations in children with congenital cytomegalovirus infection.

Ross SA et al.

Pediatric Research, 2007

Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment.

Samanich J et al.

American Journal of Medical Genetics. Part A, 2007

Low frequency of deafness-associated GJB2 variants in Kenya and Sudan and novel GJB2 variants.

Gasmelseed NMA et al.

Human Mutation, 2004

Frequency of GJB2 mutations in patients with nonsyndromic hearing loss from an ethnically characterized Brazilian population.

Felix F et al.

Brazilian Journal of Otorhinolaryngology, 0

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