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JAK2 c.1675A>T ;(p.I559F)
Variant ID: 9-5072525-A-T
NM_004972.3(
JAK2
):c.1675A>T;(p.I559F)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Characterization of JAK1 Pseudokinase Domain in Cytokine Signaling.
Cancers
Raivola, Juuli J; Haikarainen, Teemu T; Silvennoinen, Olli O
Publication Date: 2019-12-27
Variant appearance in text: JAK2: I559F
PubMed Link:
31892268
Variant Present in the following documents:
Main text
cancers-12-00078.pdf
View BVdb publication page
Hyperactivation of Oncogenic JAK3 Mutants Depend on ATP Binding to the Pseudokinase Domain.
Frontiers In Oncology
Raivola, Juuli J; Hammarén, Henrik M HM; Virtanen, Anniina T AT; Bulleeraz, Vilasha V; Ward, Alister C AC; Silvennoinen, Olli O
Publication Date: 2018
Variant appearance in text: JAK2: I559F
PubMed Link:
30560087
Variant Present in the following documents:
Main text
fonc-08-00560.pdf
View BVdb publication page
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: I559F
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: I559F
PubMed Link:
25825724
Variant Present in the following documents:
Main text
View BVdb publication page