TSC2 c.1959_1960del ;(p.G654Lfs*2)

Variant ID: 16-2121790-CAG-C

NM_000548.3(TSC2):c.1959_1960del;(p.G654Lfs*2)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Systematic assessment and optimizing algorithm of tumor mutational burden calculation and their implications in clinical decision-making.

Frontiers In Oncology
Sun, Daqiang D; Xu, Meilin M; Pan, Chaohu C; Tang, Hongzhen H; Wang, Peng P; Wu, Dongfang D; Luo, Haitao H
Publication Date: 2022

Variant appearance in text: TSC2: 1959_1960del
PubMed Link: 36425562
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_4.xlsx, sheet 1
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Evaluation of Hsp90 and mTOR inhibitors as potential drugs for the treatment of TSC1/TSC2 deficient cancer.

Plos One
Mrozek, Evelyn M EM; Bajaj, Vineeta V; Guo, Yanan Y; Malinowska, Izabela A IA; Zhang, Jianming J; Kwiatkowski, David J DJ
Publication Date: 2021

Variant appearance in text: TSC2: 1953_1954delAG; Gly654Leufs*2
PubMed Link: 33891611
Variant Present in the following documents:
  • Main text
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Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics
Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U
Publication Date: 2020-07

Variant appearance in text: TSC2: 1953_1954delAG; G654Lfs
PubMed Link: 32424350
Variant Present in the following documents:
  • NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7
View BVdb publication page