TSC2 c.1093_1095del ;(p.I365del)

Variant ID: 16-2110783-ACAT-A

NM_000548.3(TSC2):c.1093_1095del;(p.I365del)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Molecular landscape and therapeutic alterations in Asian soft-tissue sarcoma patients.

Cancer Medicine
Gan, Meifu M; Zhang, Chen C; Qiu, Liqing L; Wang, Yue Y; Bao, Hua H; Yu, Ruoying R; Liu, Rui R; Wu, Xue X; Shao, Yang Y; Hou, Peifeng P; Fei, Zhenglei Z
Publication Date: 2022-11

Variant appearance in text: TSC2: 1093_1095delATC; I365del
PubMed Link: 35586877
Variant Present in the following documents:
  • CAM4-11-4070-s004.xlsx, sheet 1
View BVdb publication page



Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.

Aging
Jiangyi, Wang W; Gang, Guo G; Guohai, Shi S; Dingwei, Ye Y
Publication Date: 2020-01-12

Variant appearance in text: TSC2: 1093_1095delATC
PubMed Link: 31927531
Variant Present in the following documents:
  • aging-12-102654-s001..xlsx, sheet 1
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: I365del
PubMed Link: 27493206
Variant Present in the following documents:
  • Main text
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: I365del
PubMed Link: 16129702
Variant Present in the following documents:
  • Main text
  • 20042469.pdf
View BVdb publication page