TSC2 c.1189C>T ;(p.Q397*)

Variant ID: 16-2111941-C-T

NM_000548.3(TSC2):c.1189C>T;(p.Q397*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine
Chang, Darwin D; Shain, A Hunter AH
Publication Date: 2021-07-16

Variant appearance in text: TSC2: Q397*
PubMed Link: 34272401
Variant Present in the following documents:
  • 41525_2021_226_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Eosinophilic Solid and Cystic (ESC) Renal Cell Carcinomas Harbor TSC Mutations: Molecular Analysis Supports an Expanding Clinicopathologic Spectrum.

The American Journal Of Surgical Pathology
Palsgrove, Doreen N DN; Li, Yunjie Y; Pratilas, Christine A CA; Lin, Ming-Tseh MT; Pallavajjalla, Aparna A; Gocke, Christopher C; De Marzo, Angelo M AM; Matoso, Andres A; Netto, George J GJ; Epstein, Jonathan I JI; Argani, Pedram P
Publication Date: 2018-09

Variant appearance in text: TSC2: 1189C>T; Q397*
PubMed Link: 29975249
Variant Present in the following documents:
  • Main text
View BVdb publication page