TSC2 c.4159T>G ;(p.S1387A)

Variant ID: 16-2134382-T-G

NM_000548.3(TSC2):c.4159T>G;(p.S1387A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


MAP4K3 inhibits Sirtuin-1 to repress the LKB1-AMPK pathway to promote amino acid-dependent activation of the mTORC1 complex.

Life Science Alliance
Branch, Mary Rose MR; Hsu, Cynthia L CL; Ohnishi, Kohta K; Shen, Wen-Chuan WC; Lee, Elian E; Meisenhelder, Jill J; Winborn, Brett B; Sopher, Bryce L BL; Taylor, J Paul JP; Hunter, Tony T; La Spada, Albert R AR
Publication Date: 2023-08

Variant appearance in text: TSC2: S1387A
PubMed Link: 37221017
Variant Present in the following documents:
  • LSA-2022-01525_review_history.pdf
View BVdb publication page



ATM signals to TSC2 in the cytoplasm to regulate mTORC1 in response to ROS.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Alexander, Angela A; Cai, Sheng-Li SL; Kim, Jinhee J; Nanez, Adrian A; Sahin, Mustafa M; MacLean, Kirsteen H KH; Inoki, Ken K; Guan, Kun-Liang KL; Shen, Jianjun J; Person, Maria D MD; Kusewitt, Donna D; Mills, Gordon B GB; Kastan, Michael B MB; Walker, Cheryl Lyn CL
Publication Date: 2010-03-02

Variant appearance in text: TSC2: S1387A
PubMed Link: 20160076
Variant Present in the following documents:
  • Main text
View BVdb publication page