TSC2 c.652T>G ;(p.S218A)

Variant ID: 16-2106648-T-G

NM_000548.3(TSC2):c.652T>G;(p.S218A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: TSC2: S218A
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 1
View BVdb publication page



The mTORC1 pathway stimulates glutamine metabolism and cell proliferation by repressing SIRT4.

Cell
Csibi, Alfred A; Fendt, Sarah-Maria SM; Li, Chenggang C; Poulogiannis, George G; Choo, Andrew Y AY; Chapski, Douglas J DJ; Jeong, Seung Min SM; Dempsey, Jamie M JM; Parkhitko, Andrey A; Morrison, Tasha T; Henske, Elizabeth P EP; Haigis, Marcia C MC; Cantley, Lewis C LC; Stephanopoulos, Gregory G; Yu, Jane J; Blenis, John J
Publication Date: 2013-05-09

Variant appearance in text: TSC2: S218A
PubMed Link: 23663782
Variant Present in the following documents:
  • Main text
View BVdb publication page