TSC2 c.3394T>G ;(p.S1132A)

Variant ID: 16-2129667-T-G

NM_000548.3(TSC2):c.3394T>G;(p.S1132A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


PDK1-SGK1 Signaling Sustains AKT-Independent mTORC1 Activation and Confers Resistance to PI3Kα Inhibition.

Cancer Cell
Castel, Pau P; Ellis, Haley H; Bago, Ruzica R; Toska, Eneda E; Razavi, Pedram P; Carmona, F Javier FJ; Kannan, Srinivasaraghavan S; Verma, Chandra S CS; Dickler, Maura M; Chandarlapaty, Sarat S; Brogi, Edi E; Alessi, Dario R DR; Baselga, José J; Scaltriti, Maurizio M
Publication Date: 2016-08-08

Variant appearance in text: TSC2: S1132A
PubMed Link: 27451907
Variant Present in the following documents:
  • mmc2.pdf
View BVdb publication page



Activity of TSC2 is inhibited by AKT-mediated phosphorylation and membrane partitioning.

The Journal Of Cell Biology
Cai, Sheng-Li SL; Tee, Andrew R AR; Short, John D JD; Bergeron, Judith M JM; Kim, Jinhee J; Shen, Jianjun J; Guo, Ruifeng R; Johnson, Charles L CL; Kiguchi, Kaoru K; Walker, Cheryl Lyn CL
Publication Date: 2006-04-24

Variant appearance in text: tuberin: S1132A
PubMed Link: 16636147
Variant Present in the following documents:
  • Main text
  • jcb1730279.pdf
View BVdb publication page