GJB6 c.263C>T ;(p.A88V)

Variant ID: 13-20797357-G-A

NM_001110219.2(GJB6):c.263C>T;(p.A88V)

This variant was identified in 20 publications

View GRCh38 version.




Publications:


Gap junctions in Turing-type periodic feather pattern formation.

Biorxiv : The Preprint Server For Biology
Tseng, Chun-Chih CC; Woolley, Thomas E TE; Jiang, Ting-Xin TX; Wu, Ping P; Maini, Philip K PK; Widelitz, Randall B RB; Chuong, Cheng-Ming CM
Publication Date: 2023-04-16

Variant appearance in text: GJB6: A88V
PubMed Link: 37090608
Variant Present in the following documents:
  • Main text
  • nihpp-2023.04.15.537019v1.pdf
View BVdb publication page



Hidrotic ectodermal dysplasia in a Chinese pedigree: A case report.

World Journal Of Clinical Cases
Liao, Ming-Yi MY; Peng, Hui H; Li, Long-Nian LN; Yang, Tao T; Xiong, Shi-Yin SY; Ye, Xiao-Ying XY
Publication Date: 2023-02-26

Variant appearance in text: GJB6: 263C>T; A88V
PubMed Link: 36926140
Variant Present in the following documents:
  • WJCC-11-1403.pdf
View BVdb publication page



A Quantitative Assay for Ca2+ Uptake through Normal and Pathological Hemichannels.

International Journal Of Molecular Sciences
Nardin, Chiara C; Tettey-Matey, Abraham A; Donati, Viola V; Marazziti, Daniela D; Di Pietro, Chiara C; Peres, Chiara C; Raspa, Marcello M; Zonta, Francesco F; Yang, Guang G; Gorelik, Maryna M; Singh, Serena S; Cardarelli, Lia L; Sidhu, Sachdev S SS; Mammano, Fabio F
Publication Date: 2022-06-30

Variant appearance in text: GJB6: A88V
PubMed Link: 35806342
Variant Present in the following documents:
  • ijms-23-07337.pdf
View BVdb publication page



Investigating the characteristics of genes and variants associated with self-reported hearing difficulty in older adults in the UK Biobank.

Bmc Biology
Lewis, Morag A MA; Schulte, Bradley A BA; Dubno, Judy R JR; Steel, Karen P KP
Publication Date: 2022-06-27

Variant appearance in text: GJB6: Ala88Val
PubMed Link: 35761239
Variant Present in the following documents:
  • Main text
  • 12915_2022_Article_1349.pdf
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs28937872
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs28937872
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia.

Hereditas
Zhan, Yi Y; Luo, Shuaihantian S; Pi, Zixin Z; Zhang, Guiying G
Publication Date: 2020-08-25

Variant appearance in text: GJB6: A88V
PubMed Link: 32843087
Variant Present in the following documents:
  • Main text
  • 41065_2020_Article_148.pdf
View BVdb publication page



Assessment of Gap Junction Protein Beta-2 rs3751385 Gene Polymorphism in Psoriasis Vulgaris.

Journal Of Clinical Medicine Research
Stylianaki, Elli-Anna EA; Karpouzis, Anthony A; Tripsianis, Gregory G; Veletza, Stavroula S
Publication Date: 2019-09

Variant appearance in text: GJB6: A88V
PubMed Link: 31523338
Variant Present in the following documents:
  • Main text
  • jocmr-11-642.pdf
View BVdb publication page



Mutation-Proved Clouston Syndrome in a Large Indian Family with a Variant Phenotype.

Indian Journal Of Dermatology
Khatter, Sangeeta S; Puri, Ratna Dua RD; Mahay, Sunita Bijarnia SB; Bhai, Pratibha P; Saxena, Renu R; Verma, Ishwar C IC
Publication Date: 2019

Variant appearance in text: GJB6: A88V
PubMed Link: 30983611
Variant Present in the following documents:
  • Main text
View BVdb publication page



GJB6 mutation A88V for hidrotic ectodermal dysplasia in a Chinese family.

International Journal Of Dermatology
Shi, Xiaofeng X; Li, Dongya D; Chen, Min M; Liu, Yichen Y; Yan, Qi Q; Yu, Xianqiu X; Zhu, Yan Y; Li, Yumei Y
Publication Date: 2019-12

Variant appearance in text: GJB6: 263C>T
PubMed Link: 30620052
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comprehensive genomic analysis of Oesophageal Squamous Cell Carcinoma reveals clinical relevance.

Scientific Reports
Du, Peina P; Huang, Peide P; Huang, Xuanlin X; Li, Xiangchun X; Feng, Zhimin Z; Li, Fengyu F; Liang, Shaoguang S; Song, Yongmei Y; Stenvang, Jan J; Brünner, Nils N; Yang, Huanming H; Ou, Yunwei Y; Gao, Qiang Q; Li, Lin L
Publication Date: 2017-11-10

Variant appearance in text: GJB6: 263C>T; A88V
PubMed Link: 29127303
Variant Present in the following documents:
  • 41598_2017_14909_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



[A gene study of a family with hidrotic ectodermal dysplasia].

Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal Of Contemporary Pediatrics
Qiao, Wen-Xing WX; Liu, Li L
Publication Date: 2016-11

Variant appearance in text: GJB6: A88V
PubMed Link: 27817781
Variant Present in the following documents:
  • Main text
View BVdb publication page



Connexin channels in congenital skin disorders.

Seminars In Cell & Developmental Biology
Lilly, Evelyn E; Sellitto, Caterina C; Milstone, Leonard M LM; White, Thomas W TW
Publication Date: 2016-02

Variant appearance in text: GJB6: A88V
PubMed Link: 26775130
Variant Present in the following documents:
  • Main text
View BVdb publication page



Connexin hemichannels influence genetically determined inflammatory and hyperproliferative skin diseases.

Pharmacological Research
Levit, Noah A NA; White, Thomas W TW
Publication Date: 2015-09

Variant appearance in text: GJB6: A88V
PubMed Link: 26211951
Variant Present in the following documents:
  • Main text
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: GJB6: A88V
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology
Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP
Publication Date: 2015-03

Variant appearance in text: GJB6: A88V
PubMed Link: 25794154
Variant Present in the following documents:
  • pcbi.1004147.s001.xlsx, sheet 1
View BVdb publication page



A novel homozygous mutation in the EC1/EC2 interaction domain of the gap junction complex connexon 26 leads to profound hearing impairment.

Biomed Research International
Birkenhäger, Ralf R; Prera, Nicola N; Aschendorff, Antje A; Laszig, Roland R; Arndt, Susan S
Publication Date: 2014

Variant appearance in text: GJB6: A88V
PubMed Link: 24551843
Variant Present in the following documents:
  • BMRI2014-307976.pdf
View BVdb publication page



Clouston syndrome: first case in Russia.

Balkan Journal Of Medical Genetics : Bjmg
Marakhonov, Av A; Skoblov, Myu M; Galkina, Va V; Zinchenko, Ra R
Publication Date: 2012-06

Variant appearance in text: GJB6: 263C>T; A88V
PubMed Link: 24052723
Variant Present in the following documents:
  • Main text
  • bjmg-15-01-51.pdf
View BVdb publication page



The human Cx26-D50A and Cx26-A88V mutations causing keratitis-ichthyosis-deafness syndrome display increased hemichannel activity.

American Journal Of Physiology. Cell Physiology
Mhaske, Pallavi V PV; Levit, Noah A NA; Li, Leping L; Wang, Hong-Zhan HZ; Lee, Jack R JR; Shuja, Zunaira Z; Brink, Peter R PR; White, Thomas W TW
Publication Date: 2013-06-15

Variant appearance in text: GJB6: A88V
PubMed Link: 23447037
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pathological hemichannels associated with human Cx26 mutations causing Keratitis-Ichthyosis-Deafness syndrome.

Biochimica Et Biophysica Acta
Levit, Noah A NA; Mese, Gulistan G; Basaly, Mena-George R MG; White, Thomas W TW
Publication Date: 2012-08

Variant appearance in text: GJB6: A88V
PubMed Link: 21933663
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gap-junction channels dysfunction in deafness and hearing loss.

Antioxidants & Redox Signaling
Martínez, Agustín D AD; Acuña, Rodrigo R; Figueroa, Vania V; Maripillan, Jaime J; Nicholson, Bruce B
Publication Date: 2009-02

Variant appearance in text: GJB6: A88V
PubMed Link: 18837651
Variant Present in the following documents:
  • Main text
View BVdb publication page