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JAK2 c.2029A>G ;(p.K677E)
Variant ID: 9-5078342-A-G
NM_004972.3(
JAK2
):c.2029A>G;(p.K677E)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: K677E
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: K677E
PubMed Link:
25825724
Variant Present in the following documents:
Main text
View BVdb publication page