Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
mutant
|
| gptkbp:aminoAcidChange |
1849G>T
Valine to Phenylalanine at position 617 |
| gptkbp:associatedWith |
gptkb:polycythemia_vera
essential thrombocythemia primary myelofibrosis |
| gptkbp:discoveredIn |
2005
|
| gptkbp:effect |
constitutive activation of JAK2
|
| gptkbp:foundIn |
myeloproliferative neoplasms
|
| gptkbp:frequencyInEssentialThrombocythemia |
~50-60%
|
| gptkbp:frequencyInPolycythemiaVera |
~95%
|
| gptkbp:frequencyInPrimaryMyelofibrosis |
~50-60%
|
| https://www.w3.org/2000/01/rdf-schema#label |
V617F
|
| gptkbp:locatedOnChromosome |
gptkb:9p24.1
|
| gptkbp:regulates |
gptkb:JAK2
|
| gptkbp:typeOfMutation |
missense mutation
|
| gptkbp:usedIn |
diagnosis of myeloproliferative neoplasms
|
| gptkbp:bfsParent |
gptkb:JAK2_mutation
|
| gptkbp:bfsLayer |
6
|