GJB1 c.123G>T ;(p.E41D)

Variant ID: X-70443680-G-T

NM_000166.5(GJB1):c.123G>T;(p.E41D)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


New evidence for secondary axonal degeneration in demyelinating neuropathies.

Neuroscience Letters
Moss, Kathryn R KR; Bopp, Taylor S TS; Johnson, Anna E AE; Höke, Ahmet A
Publication Date: 2021-01-23

Variant appearance in text: GJB1: E41D
PubMed Link: 33359733
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Targeted Gene Panel That Covers Coding, Non-coding and Short Tandem Repeat Regions Improves the Diagnosis of Patients With Neurodegenerative Diseases.

Frontiers In Neuroscience
Yu, Allen Chi-Shing AC; Yim, Aldrin Kay-Yuen AK; Chan, Anne Yin-Yan AY; Yuen, Liz Y P LYP; Au, Wing Chi WC; Cheng, Timothy H T THT; Lin, Xiao X; Li, Jing-Woei JW; Chan, Larry W L LWL; Mok, Vincent C T VCT; Chan, Ting-Fung TF; Chan, Ho Yin Edwin HYE
Publication Date: 2019

Variant appearance in text: GJB1: Glu41Asp
PubMed Link: 31920494
Variant Present in the following documents:
  • Main text
  • fnins-13-01324.pdf
View BVdb publication page



MHC class II restricted neoantigen peptides predicted by clonal mutation analysis in lung adenocarcinoma patients: implications on prognostic immunological biomarker and vaccine design.

Bmc Genomics
Cai, Weijing W; Zhou, Dapeng D; Wu, Weibo W; Tan, Wen Ling WL; Wang, Jiaqian J; Zhou, Caicun C; Lou, Yanyan Y
Publication Date: 2018-08-03

Variant appearance in text: GJB1: E41D
PubMed Link: 30075702
Variant Present in the following documents:
  • 12864_2018_4958_MOESM4_ESM.xlsx, sheet 1
  • 12864_2018_4958_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell
Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD
Publication Date: 2018-05-14

Variant appearance in text: GJB1: E41D
PubMed Link: 29657128
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: GJB1: 123G>T; E41D
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: GJB1: E41D
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page