TSC2 c.1778A>G ;(p.H593R)

Variant ID: 16-2120518-A-G

NM_000548.3(TSC2):c.1778A>G;(p.H593R)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: TSC2: 1778A>G; H593R
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: TSC2: H593R
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Complementary genomic approaches highlight the PI3K/mTOR pathway as a common vulnerability in osteosarcoma.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Perry, Jennifer A JA; Kiezun, Adam A; Tonzi, Peter P; Van Allen, Eliezer M EM; Carter, Scott L SL; Baca, Sylvan C SC; Cowley, Glenn S GS; Bhatt, Ami S AS; Rheinbay, Esther E; Pedamallu, Chandra Sekhar CS; Helman, Elena E; Taylor-Weiner, Amaro A; McKenna, Aaron A; DeLuca, David S DS; Lawrence, Michael S MS; Ambrogio, Lauren L; Sougnez, Carrie C; Sivachenko, Andrey A; Walensky, Loren D LD; Wagle, Nikhil N; Mora, Jaume J; de Torres, Carmen C; Lavarino, Cinzia C; Dos Santos Aguiar, Simone S; Yunes, Jose Andres JA; Brandalise, Silvia Regina SR; Mercado-Celis, Gabriela Elisa GE; Melendez-Zajgla, Jorge J; Cárdenas-Cardós, Rocío R; Velasco-Hidalgo, Liliana L; Roberts, Charles W M CW; Garraway, Levi A LA; Rodriguez-Galindo, Carlos C; Gabriel, Stacey B SB; Lander, Eric S ES; Golub, Todd R TR; Orkin, Stuart H SH; Getz, Gad G; Janeway, Katherine A KA
Publication Date: 2014-12-23

Variant appearance in text: TSC2: H593R
PubMed Link: 25512523
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.

Molecular Autism
Bahl, Samira S; Chiang, Colby C; Beauchamp, Roberta L RL; Neale, Benjamin M BM; Daly, Mark J MJ; Gusella, James F JF; Talkowski, Michael E ME; Ramesh, Vijaya V
Publication Date: 2013-03-20

Variant appearance in text: TSC2: H593R
PubMed Link: 23514105
Variant Present in the following documents:
  • 2040-2392-4-5-S5.xls, sheet 1
View BVdb publication page