JAK2 c.2032_2033delinsGC ;(p.N678A)

Variant ID: 9-5078345-AA-GC

NM_004972.3(JAK2):c.2032_2033delinsGC;(p.N678A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


ATP binding to the pseudokinase domain of JAK2 is critical for pathogenic activation.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Hammarén, Henrik M HM; Ungureanu, Daniela D; Grisouard, Jean J; Skoda, Radek C RC; Hubbard, Stevan R SR; Silvennoinen, Olli O
Publication Date: 2015-04-14

Variant appearance in text: JAK2: N678A
PubMed Link: 25825724
Variant Present in the following documents:
  • Main text
View BVdb publication page



The pseudokinase domain of JAK2 is a dual-specificity protein kinase that negatively regulates cytokine signaling.

Nature Structural & Molecular Biology
Ungureanu, Daniela D; Wu, Jinhua J; Pekkala, Tuija T; Niranjan, Yashavanthi Y; Young, Clifford C; Jensen, Ole N ON; Xu, Chong-Feng CF; Neubert, Thomas A TA; Skoda, Radek C RC; Hubbard, Stevan R SR; Silvennoinen, Olli O
Publication Date: 2011-08-14

Variant appearance in text: JAK2: N678A
PubMed Link: 21841788
Variant Present in the following documents:
  • Main text
View BVdb publication page