KIT c.2467_2468delinsGC ;(p.Y823A)

Variant ID: 4-55599341-TA-GC

NM_000222.2(KIT):c.2467_2468delinsGC;(p.Y823A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: KIT: Y823A
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Tyrosine 842 in the activation loop is required for full transformation by the oncogenic mutant FLT3-ITD.

Cellular And Molecular Life Sciences : Cmls
Kazi, Julhash U JU; Chougule, Rohit A RA; Li, Tianfeng T; Su, Xianwei X; Moharram, Sausan A SA; Rupar, Kaja K; Marhäll, Alissa A; Gazi, Mohiuddin M; Sun, Jianmin J; Zhao, Hui H; Rönnstrand, Lars L
Publication Date: 2017-07

Variant appearance in text: KIT: Y823A
PubMed Link: 28271164
Variant Present in the following documents:
  • Main text
  • 18_2017_Article_2494.pdf
View BVdb publication page