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JAK2 c.1784_1785inv ;(p.F595*)
Variant ID: 9-5073705-TT-AA
NM_004972.3(
JAK2
):c.1784_1785inv;(p.F595*)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
JAK2 V617F constitutive activation requires JH2 residue F595: a pseudokinase domain target for specific inhibitors.
Plos One
Dusa, Alexandra A; Mouton, CĂ©line C; Pecquet, Christian C; Herman, Murielle M; Constantinescu, Stefan N SN
Publication Date: 2010-06-16
Variant appearance in text: JAK2: F595X
PubMed Link:
20585391
Variant Present in the following documents:
Main text
pone.0011157.pdf
View BVdb publication page