TG c.1726G>T ;(p.E576*)

Variant ID: 8-133899343-G-T

NM_003235.4(TG):c.1726G>T;(p.E576*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22

Variant appearance in text: TG: 1726G>T; E576*
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Membrane potential drives the exit from pluripotency and cell fate commitment via calcium and mTOR.

Nature Communications
Sempou, Emily E; Kostiuk, Valentyna V; Zhu, Jie J; Cecilia Guerra, M M; Tyan, Leonid L; Hwang, Woong W; Camacho-Aguilar, Elena E; Caplan, Michael J MJ; Zenisek, David D; Warmflash, Aryeh A; Owens, Nick D L NDL; Khokha, Mustafa K MK
Publication Date: 2022-11-05

Variant appearance in text: TG: E576X
PubMed Link: 36335122
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Journal Of Lipid Research
Dong, Weilai W; Wong, Karen H Y KHY; Liu, Youbin Y; Levy-Sakin, Michal M; Hung, Wei-Chien WC; Li, Mo M; Li, Boyang B; Jin, Sheng Chih SC; Choi, Jungmin J; Lopez-Giraldez, Francesc F; Vaka, Dedeepya D; Poon, Annie A; Chu, Catherine C; Lao, Richard R; Balamir, Melek M; Movsesyan, Irina I; Malloy, Mary J MJ; Zhao, Hongyu H; Kwok, Pui-Yan PY; Kane, John P JP; Lifton, Richard P RP; Pullinger, Clive R CR
Publication Date: 2022-06

Variant appearance in text: TG: Glu576*
PubMed Link: 35460704
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page