TSC2 c.1210C>T ;(p.Q404*)

Variant ID: 16-2111962-C-T

NM_000548.3(TSC2):c.1210C>T;(p.Q404*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: TSC2: Q404*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: TSC2: 1210C>T; Q404*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Angiomyolipoma have common mutations in TSC2 but no other common genetic events.

Plos One
Qin, Wei W; Bajaj, Vineeta V; Malinowska, Izabela I; Lu, Xin X; MacConaill, Laura L; Wu, Chin-Lee CL; Kwiatkowski, David J DJ
Publication Date: 2011

Variant appearance in text: TSC2: 1210C>T; Gln404X
PubMed Link: 21949787
Variant Present in the following documents:
  • Main text
  • pone.0024919.pdf
View BVdb publication page