TSC2 c.881G>A ;(p.G294E)

Variant ID: 16-2108780-G-A

NM_000548.3(TSC2):c.881G>A;(p.G294E)

This variant was identified in 7 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: 881G>A
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
  • 41467_2020_20162_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page



Architecture of the Tuberous Sclerosis Protein Complex.

Journal Of Molecular Biology
Ramlaul, Kailash K; Fu, Wencheng W; Li, Hua H; de Martin Garrido, Natàlia N; He, Lin L; Trivedi, Manjari M; Cui, Wei W; Aylett, Christopher H S CHS; Wu, Geng G
Publication Date: 2021-01-22

Variant appearance in text: TSC2: G294E
PubMed Link: 33307091
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Structure of the Tuberous Sclerosis Complex 2 (TSC2) N Terminus Provides Insight into Complex Assembly and Tuberous Sclerosis Pathogenesis.

The Journal Of Biological Chemistry
Zech, Reinhard R; Kiontke, Stephan S; Mueller, Uwe U; Oeckinghaus, Andrea A; Kümmel, Daniel D
Publication Date: 2016-09-16

Variant appearance in text: tuberin: G294E
PubMed Link: 27493206
Variant Present in the following documents:
  • Main text
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: G294E; rs45487497
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



A tuberous sclerosis complex signalling node at the peroxisome regulates mTORC1 and autophagy in response to ROS.

Nature Cell Biology
Zhang, Jiangwei J; Kim, Jinhee J; Alexander, Angela A; Cai, Shengli S; Tripathi, Durga Nand DN; Dere, Ruhee R; Tee, Andrew R AR; Tait-Mulder, Jacqueline J; Di Nardo, Alessia A; Han, Juliette M JM; Kwiatkowski, Erica E; Dunlop, Elaine A EA; Dodd, Kayleigh M KM; Folkerth, Rebecca D RD; Faust, Phyllis L PL; Kastan, Michael B MB; Sahin, Mustafa M; Walker, Cheryl Lyn CL
Publication Date: 2013-10

Variant appearance in text: TSC2: G294E
PubMed Link: 23955302
Variant Present in the following documents:
  • Main text
  • nihms504554.pdf
View BVdb publication page



MCP-1 overexpressed in tuberous sclerosis lesions acts as a paracrine factor for tumor development.

The Journal Of Experimental Medicine
Li, Shaowei S; Takeuchi, Fumiko F; Wang, Ji-an JA; Fuller, Christopher C; Pacheco-Rodriguez, Gustavo G; Moss, Joel J; Darling, Thomas N TN
Publication Date: 2005-09-05

Variant appearance in text: tuberin: G294E
PubMed Link: 16129702
Variant Present in the following documents:
  • Main text
View BVdb publication page



Tuberous sclerosis complex tumor suppressor-mediated S6 kinase inhibition by phosphatidylinositide-3-OH kinase is mTOR independent.

The Journal Of Cell Biology
Jaeschke, Anja A; Hartkamp, Joerg J; Saitoh, Masao M; Roworth, Wendy W; Nobukuni, Takahiro T; Hodges, Angela A; Sampson, Julian J; Thomas, George G; Lamb, Richard R
Publication Date: 2002-10-28

Variant appearance in text: TSC2: G294E
PubMed Link: 12403809
Variant Present in the following documents:
  • Main text
  • 200206108.pdf
View BVdb publication page