TSC2 c.1117C>T ;(p.Q373*)

Variant ID: 16-2110812-C-T

NM_000548.3(TSC2):c.1117C>T;(p.Q373*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Mutational and putative neoantigen load predict clinical benefit of adoptive T cell therapy in melanoma.

Nature Communications
Lauss, Martin M; Donia, Marco M; Harbst, Katja K; Andersen, Rikke R; Mitra, Shamik S; Rosengren, Frida F; Salim, Maryem M; Vallon-Christersson, Johan J; Törngren, Therese T; Kvist, Anders A; Ringnér, Markus M; Svane, Inge Marie IM; Jönsson, Göran G
Publication Date: 2017-11-23

Variant appearance in text: TSC2: 1117C>T; Q373*
PubMed Link: 29170503
Variant Present in the following documents:
  • 41467_2017_1460_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Sun exposure causes somatic second-hit mutations and angiofibroma development in tuberous sclerosis complex.

Human Molecular Genetics
Tyburczy, Magdalena E ME; Wang, Ji-An JA; Li, Shaowei S; Thangapazham, Rajesh R; Chekaluk, Yvonne Y; Moss, Joel J; Kwiatkowski, David J DJ; Darling, Thomas N TN
Publication Date: 2014-04-15

Variant appearance in text: TSC2: Q373*
PubMed Link: 24271014
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

Bmc Medical Genetics
Hung, Chia-Cheng CC; Su, Yi-Ning YN; Chien, Shu-Chin SC; Liou, Horng-Huei HH; Chen, Chih-Chuan CC; Chen, Pau-Chung PC; Hsieh, Chia-Jung CJ; Chen, Chih-Ping CP; Lee, Wang-Tso WT; Lin, Win-Li WL; Lee, Chien-Nan CN
Publication Date: 2006-09-18

Variant appearance in text: TSC2: 1117C>T; Q373X
PubMed Link: 16981987
Variant Present in the following documents:
  • Main text
  • 1471-2350-7-72.pdf
View BVdb publication page