TSC2 c.4384A>G ;(p.T1462A)

Variant ID: 16-2134607-A-G

NM_000548.3(TSC2):c.4384A>G;(p.T1462A)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


The Tuberin and Cyclin B1 complex functions as a novel G2/M sensor of serum conditions and Akt signaling.

Plos One
Fidalgo da Silva, Elizabeth E; Botsford, Sabrina S; Dare-Shih, Jessica J; Hanna, Miranda A MA; Porter, Lisa A LA
Publication Date: 2019

Variant appearance in text: TSC2: T1462A
PubMed Link: 30629673
Variant Present in the following documents:
  • Main text
  • pone.0210612.pdf
View BVdb publication page



Epstein-Barr Virus-Encoded Latent Membrane Protein 1 Upregulates Glucose Transporter 1 Transcription via the mTORC1/NF-κB Signaling Pathways.

Journal Of Virology
Zhang, Jun J; Jia, Lin L; Lin, Weitao W; Yip, Yim Ling YL; Lo, Kwok Wai KW; Lau, Victoria Ming Yi VMY; Zhu, Dandan D; Tsang, Chi Man CM; Zhou, Yuan Y; Deng, Wen W; Lung, Hong Lok HL; Lung, Maria Li ML; Cheung, Lai Man LM; Tsao, Sai Wah SW
Publication Date: 2017-03-15

Variant appearance in text: TSC2: T1462A
PubMed Link: 28053105
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: T1462A
PubMed Link: 27451907
Variant Present in the following documents:
  • mmc2.pdf
View BVdb publication page



A novel Hap1-Tsc1 interaction regulates neuronal mTORC1 signaling and morphogenesis in the brain.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience
Mejia, Luis A LA; Litterman, Nadia N; Ikeuchi, Yoshiho Y; de la Torre-Ubieta, Luis L; Bennett, Eric J EJ; Zhang, Chi C; Harper, J Wade JW; Bonni, Azad A
Publication Date: 2013-11-13

Variant appearance in text: TSC2: Thr1462Ala
PubMed Link: 24227713
Variant Present in the following documents:
  • Main text
View BVdb publication page



Insulin like growth factor-1-induced phosphorylation and altered distribution of tuberous sclerosis complex (TSC)1/TSC2 in C2C12 myotubes.

The Febs Journal
Miyazaki, Mitsunori M; McCarthy, John J JJ; Esser, Karyn A KA
Publication Date: 2010-05

Variant appearance in text: TSC2: T1462A
PubMed Link: 20412061
Variant Present in the following documents:
  • Main text
View BVdb publication page



The NADPH oxidase subunit p22phox inhibits the function of the tumor suppressor protein tuberin.

The American Journal Of Pathology
Block, Karen K; Gorin, Yves Y; New, David D DD; Eid, Assaad A; Chelmicki, Tomasz T; Reed, Amanda A; Choudhury, Goutam Ghosh GG; Parekh, Dipen J DJ; Abboud, Hanna E HE
Publication Date: 2010-05

Variant appearance in text: tuberin: T1462A
PubMed Link: 20304964
Variant Present in the following documents:
  • Main text
View BVdb publication page



Insulin stimulates adipogenesis through the Akt-TSC2-mTORC1 pathway.

Plos One
Zhang, Hui H HH; Huang, Jingxiang J; Düvel, Katrin K; Boback, Bernard B; Wu, Shulin S; Squillace, Rachel M RM; Wu, Chin-Lee CL; Manning, Brendan D BD
Publication Date: 2009-07-10

Variant appearance in text: TSC2: T1462A
PubMed Link: 19593385
Variant Present in the following documents:
  • Main text
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: TSC2: T1462A
PubMed Link: 16636147
Variant Present in the following documents:
  • Main text
  • jcb1730279.pdf
View BVdb publication page