TSC2 c.4573C>T ;(p.Q1525*)

Variant ID: 16-2135234-C-T

NM_000548.3(TSC2):c.4573C>T;(p.Q1525*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Clinical and Molecular Features of Skin Malignancies in Muir-Torre Syndrome.

Genes
Simic, Dario D; Dummer, Reinhard R; Freiberger, Sandra N SN; Ramelyte, Egle E; Barysch, Marjam-Jeanette MJ
Publication Date: 2021-05-20

Variant appearance in text: TSC2: 4573C>T; Gln1525*
PubMed Link: 34065301
Variant Present in the following documents:
  • Main text
  • genes-12-00781.pdf
View BVdb publication page



Suppressed expression of autophagosomal protein LC3 in cortical tubers of tuberous sclerosis complex.

Brain Pathology (Zurich, Switzerland)
Miyahara, Hiroaki H; Natsumeda, Manabu M; Shiga, Atsushi A; Aoki, Hiroshi H; Toyoshima, Yasuko Y; Zheng, Yingjun Y; Takeuchi, Ryoko R; Murakami, Hiroatsu H; Masuda, Hiroshi H; Kameyama, Shigeki S; Izumi, Tatsuro T; Fujii, Yukihiko Y; Takahashi, Hitoshi H; Kakita, Akiyoshi A
Publication Date: 2013-05

Variant appearance in text: TSC2: Q1525X
PubMed Link: 22974335
Variant Present in the following documents:
  • Main text
View BVdb publication page