GAA c.1151_1152delinsTG ;(p.T384M)

Variant ID: 17-78082363-CC-TG

NM_000152.3(GAA):c.1151_1152delinsTG;(p.T384M)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.

Nature Communications
Dufva, Olli O; Kankainen, Matti M; Kelkka, Tiina T; Sekiguchi, Nodoka N; Awad, Shady Adnan SA; Eldfors, Samuli S; Yadav, Bhagwan B; Kuusanmäki, Heikki H; Malani, Disha D; Andersson, Emma I EI; Pietarinen, Paavo P; Saikko, Leena L; Kovanen, Panu E PE; Ojala, Teija T; Lee, Dean A DA; Loughran, Thomas P TP; Nakazawa, Hideyuki H; Suzumiya, Junji J; Suzuki, Ritsuro R; Ko, Young Hyeh YH; Kim, Won Seog WS; Chuang, Shih-Sung SS; Aittokallio, Tero T; Chan, Wing C WC; Ohshima, Koichi K; Ishida, Fumihiro F; Mustjoki, Satu S
Publication Date: 2018-04-19

Variant appearance in text: GAA: T384M
PubMed Link: 29674644
Variant Present in the following documents:
  • 41467_2018_3987_MOESM6_ESM.xlsx, sheet 21
View BVdb publication page



Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review.

Plos One
Kulkarni, Bipin P BP; Nair, Sona B SB; Vijapurkar, Manasi M; Mota, Leenam L; Shanbhag, Sharda S; Ali, Shehnaz S; Shetty, Shrimati D SD; Ghosh, Kanjaksha K
Publication Date: 2014

Variant appearance in text: GAA: Thr384Met
PubMed Link: 25275492
Variant Present in the following documents:
  • Main text
  • pone.0108683.pdf
View BVdb publication page