JAK2 c.2365G>A ;(p.D789N)

Variant ID: 9-5080614-G-A

NM_004972.3(JAK2):c.2365G>A;(p.D789N)

This variant was identified in 3 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: Asp789Asn
PubMed Link: 36669486
Variant Present in the following documents:
  • mmc4.xlsx, sheet 2
View BVdb publication page



Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine
Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z
Publication Date: 2022-07

Variant appearance in text: JAK2: 2365G>A
PubMed Link: 35665681
Variant Present in the following documents:
  • mmc26.xlsx, sheet 1
View BVdb publication page



Quantitative phosphotyrosine profiling of patient-derived xenografts identifies therapeutic targets in pediatric leukemia.

Cancer Research
Dolai, Sibasish S; Sia, Keith C S KC; Robbins, Alissa K AK; Zhong, Ling L; Heatley, Sue L SL; Vincent, Tiffaney L TL; Hochgräfe, Falko F; Sutton, Rosemary R; Kurmasheva, Raushan T RT; Revesz, Tamas T; White, Deborah L DL; Houghton, Peter J PJ; Smith, Malcolm A MA; Teachey, David T DT; Daly, Roger J RJ; Raftery, Mark J MJ; Lock, Richard B RB
Publication Date: 2016-05

Variant appearance in text: JAK2: D789N
PubMed Link: 26960974
Variant Present in the following documents:
  • Main text
View BVdb publication page