JAK2 c.2536G>A ;(p.E846K)

Variant ID: 9-5081826-G-A

NM_004972.3(JAK2):c.2536G>A;(p.E846K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Base editing screens map mutations affecting interferon-γ signaling in cancer.

Cancer Cell
Coelho, Matthew A MA; Cooper, Sarah S; Strauss, Magdalena E ME; Karakoc, Emre E; Bhosle, Shriram S; Gonçalves, Emanuel E; Picco, Gabriele G; Burgold, Thomas T; Cattaneo, Chiara M CM; Veninga, Vivien V; Consonni, Sarah S; Dinçer, Cansu C; Vieira, Sara F SF; Gibson, Freddy F; Barthorpe, Syd S; Hardy, Claire C; Rein, Joel J; Thomas, Mark M; Marioni, John J; Voest, Emile E EE; Bassett, Andrew A; Garnett, Mathew J MJ
Publication Date: 2023-01-10

Variant appearance in text: JAK2: Glu846Lys
PubMed Link: 36669486
Variant Present in the following documents:
  • mmc4.xlsx, sheet 2
View BVdb publication page



Etiology and Treatment of Growth Delay in Noonan Syndrome.

Frontiers In Endocrinology
Rodríguez, Fernando F; Gaete, Ximena X; Cassorla, Fernando F
Publication Date: 2021

Variant appearance in text: JAK2: E846K
PubMed Link: 34149626
Variant Present in the following documents:
  • fendo-12-691240.pdf
View BVdb publication page