Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: TSC2: S1130A; rs770048768

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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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: S1130A

PubMed Link: 27451907

Variant Present in the following documents:

• mmc2.pdf

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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: S1130A

PubMed Link: 19593385

Variant Present in the following documents:

• Main text

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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: S1130A

PubMed Link: 16636147

Variant Present in the following documents:

• Main text
• jcb1730279.pdf

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