TSC2 c.116_117delinsAG ;(p.I39K)

Variant ID: 16-2098732-TC-AG

NM_000548.3(TSC2):c.116_117delinsAG;(p.I39K)

This variant was identified in 3 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: I39K
PubMed Link: 37221017
Variant Present in the following documents:
  • LSA-2022-01525_review_history.pdf
View BVdb publication page



5-HT(6) receptor recruitment of mTOR as a mechanism for perturbed cognition in schizophrenia.

Embo Molecular Medicine
Meffre, Julie J; Chaumont-Dubel, Séverine S; Mannoury la Cour, Clotilde C; Loiseau, Florence F; Watson, David J G DJ; Dekeyne, Anne A; Séveno, Martial M; Rivet, Jean-Michel JM; Gaven, Florence F; Déléris, Paul P; Hervé, Denis D; Fone, Kevin C F KC; Bockaert, Joël J; Millan, Mark J MJ; Marin, Philippe P
Publication Date: 2012-10

Variant appearance in text: TSC2: I39K
PubMed Link: 23027611
Variant Present in the following documents:
  • Main text
  • emmm0004-1043.pdf
View BVdb publication page



Turnover of the active fraction of IRS1 involves raptor-mTOR- and S6K1-dependent serine phosphorylation in cell culture models of tuberous sclerosis.

Molecular And Cellular Biology
Shah, O Jameel OJ; Hunter, Tony T
Publication Date: 2006-09

Variant appearance in text: TSC2: I39K
PubMed Link: 16914728
Variant Present in the following documents:
  • Main text
View BVdb publication page