JAK2 c.1655G>C ;(p.G552A)

Variant ID: 9-5072505-G-C

NM_004972.3(JAK2):c.1655G>C;(p.G552A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Janus kinase 2 activation mechanisms revealed by analysis of suppressing mutations.

The Journal Of Allergy And Clinical Immunology
Hammarén, Henrik M HM; Virtanen, Anniina T AT; Abraham, Bobin George BG; Peussa, Heidi H; Hubbard, Stevan R SR; Silvennoinen, Olli O
Publication Date: 2019-04

Variant appearance in text: JAK2: G552A
PubMed Link: 30092288
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: G552A
PubMed Link: 25825724
Variant Present in the following documents:
  • Main text
View BVdb publication page