JAK2 c.1786G>A ;(p.E596K)

Variant ID: 9-5073707-G-A

NM_004972.3(JAK2):c.1786G>A;(p.E596K)

This variant was identified in 4 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: Glu596Lys
PubMed Link: 36669486
Variant Present in the following documents:
  • mmc4.xlsx, sheet 2
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: JAK2: 1786G>A; E596K
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Uncoupling JAK2 V617F activation from cytokine-induced signalling by modulation of JH2 αC helix.

The Biochemical Journal
Leroy, Emilie E; Dusa, Alexandra A; Colau, Didier D; Motamedi, Amir A; Cahu, Xavier X; Mouton, Céline C; Huang, Lily J LJ; Shiau, Andrew K AK; Constantinescu, Stefan N SN
Publication Date: 2016-06-01

Variant appearance in text: JAK2: E596K
PubMed Link: 27029346
Variant Present in the following documents:
  • Main text
  • bj4731579.pdf
View BVdb publication page



Comprehensive molecular portraits of human breast tumours.

Nature
,
Publication Date: 2012-10-04

Variant appearance in text: JAK2: E596K
PubMed Link: 23000897
Variant Present in the following documents:
  • NIHMS393293-supplement-4.xls, sheet 1
View BVdb publication page