TSC2 c.2785G>T ;(p.E929*)

Variant ID: 16-2126534-G-T

NM_000548.3(TSC2):c.2785G>T;(p.E929*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Low-Dose Everolimus Maintenance Therapy for Renal Angiomyolipoma Associated With Tuberous Sclerosis Complex.

Frontiers In Medicine
Luo, Cong C; Ye, Wen-Rui WR; Zu, Xiong-Bin XB; Chen, Min-Feng MF; Qi, Lin L; Li, Yang-Le YL; Cai, Yi Y
Publication Date: 2021

Variant appearance in text: TSC2: 2785G>T; Glu929*
PubMed Link: 34901059
Variant Present in the following documents:
  • Main text
  • fmed-08-744050.pdf
View BVdb publication page



Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget
Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P
Publication Date: 2017-12-08

Variant appearance in text: TSC2: E929*
PubMed Link: 29296220
Variant Present in the following documents:
  • oncotarget-08-108020-s006.xlsx, sheet 1
View BVdb publication page