TTN c.1759A>G ;(p.T587A)

Variant ID: 2-179655476-T-C

NM_001267550.1(TTN):c.1759A>G;(p.T587A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: TTN: T587A
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Positional cloning of "Lisch-Like", a candidate modifier of susceptibility to type 2 diabetes in mice.

Plos Genetics
Dokmanovic-Chouinard, Marija M; Chung, Wendy K WK; Chevre, Jean-Claude JC; Watson, Elizabeth E; Yonan, Jason J; Wiegand, Beebe B; Bromberg, Yana Y; Wakae, Nao N; Wright, Chris V CV; Overton, John J; Ghosh, Sujoy S; Sathe, Ganesh M GM; Ammala, Carina E CE; Brown, Kathleen K KK; Ito, Rokuro R; LeDuc, Charles C; Solomon, Keely K; Fischer, Stuart G SG; Leibel, Rudolph L RL
Publication Date: 2008-07-25

Variant appearance in text: TMD: T587A
PubMed Link: 18654634
Variant Present in the following documents:
  • Main text
  • pgen.1000137.pdf
View BVdb publication page