GC c.1166G>C ;(p.G389A)

Variant ID: 4-72620224-C-G

NM_000583.3(GC):c.1166G>C;(p.G389A)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Community science designed ribosomes with beneficial phenotypes.

Nature Communications
Krüger, Antje A; Watkins, Andrew M AM; Wellington-Oguri, Roger R; Romano, Jonathan J; Kofman, Camila C; DeFoe, Alysse A; Kim, Yejun Y; Anderson-Lee, Jeff J; Fisker, Eli E; Townley, Jill J; , ; d'Aquino, Anne E AE; Das, Rhiju R; Jewett, Michael C MC
Publication Date: 2023-02-21

Variant appearance in text: GC: G389A
PubMed Link: 36810740
Variant Present in the following documents:
  • 41467_2023_35827_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Wang, Tianyun T; Kim, Chang N CN; Bakken, Trygve E TE; Gillentine, Madelyn A MA; Henning, Barbara B; Mao, Yafei Y; Gilissen, Christian C; , ; Nowakowski, Tomasz J TJ; Eichler, Evan E EE
Publication Date: 2022-11-15

Variant appearance in text: GC: 1166G>C
PubMed Link: 36350923
Variant Present in the following documents:
  • pnas.2203491119.sd01.xlsx, sheet 1
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: GC: 1166G>C
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Bmc Medical Genetics
Zhou, Yingjie Y; Tariq, Muhammad M; He, Sijie S; Abdullah, Uzma U; Zhang, Jianguo J; Baig, Shahid Mahmood SM
Publication Date: 2020-07-18

Variant appearance in text: GC: 1166G>C; Gly389Ala
PubMed Link: 32682410
Variant Present in the following documents:
  • 12881_2020_1087_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Human gastric cancer modelling using organoids.

Gut
Seidlitz, Therese T; Merker, Sebastian R SR; Rothe, Alexander A; Zakrzewski, Falk F; von Neubeck, Cläre C; Grützmann, Konrad K; Sommer, Ulrich U; Schweitzer, Christine C; Schölch, Sebastian S; Uhlemann, Heike H; Gaebler, Anne-Marlene AM; Werner, Kristin K; Krause, Mechthild M; Baretton, Gustavo B GB; Welsch, Thilo T; Koo, Bon-Kyoung BK; Aust, Daniela E DE; Klink, Barbara B; Weitz, Jürgen J; Stange, Daniel E DE
Publication Date: 2019-02

Variant appearance in text: GC: Gly389Ala
PubMed Link: 29703791
Variant Present in the following documents:
  • gutjnl-2017-314549supp010.xlsx, sheet 3
View BVdb publication page



Comparative genomic analysis of Brucella abortus vaccine strain 104M reveals a set of candidate genes associated with its virulence attenuation.

Virulence
Yu, Dong D; Hui, Yiming Y; Zai, Xiaodong X; Xu, Junjie J; Liang, Long L; Wang, Bingxiang B; Yue, Junjie J; Li, Shanhu S
Publication Date: 2015

Variant appearance in text: GC: G389A
PubMed Link: 26039674
Variant Present in the following documents:
  • Main text
View BVdb publication page



Myosin-1c regulates the dynamic stability of E-cadherin-based cell-cell contacts in polarized Madin-Darby canine kidney cells.

Molecular Biology Of The Cell
Tokuo, Hiroshi H; Coluccio, Lynne M LM
Publication Date: 2013-09

Variant appearance in text: GC: G389A
PubMed Link: 23864705
Variant Present in the following documents:
  • 2820.pdf
View BVdb publication page