Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:genetic_disorder
|
| gptkbp:aminoAcidChange |
valine to glutamic acid at position 600
|
| gptkbp:associatedWith |
gptkb:hairy_cell_leukemia
gptkb:lung_adenocarcinoma gptkb:papillary_thyroid_carcinoma gptkb:melanoma colorectal cancer |
| gptkbp:cause |
increased MAPK pathway signaling
|
| gptkbp:discoveredIn |
2002
|
| gptkbp:Entrez_Gene_ID |
gptkb:rs113488022
|
| gptkbp:HGVS |
c.1799T>A (p.Val600Glu)
|
| gptkbp:mutationAssociatedWith |
missense mutation
|
| gptkbp:prevalenceInColorectalCancer |
~10%
|
| gptkbp:prevalenceInMelanoma |
~50%
|
| gptkbp:prevalenceInPapillaryThyroidCarcinoma |
~45%
|
| gptkbp:regulates |
gptkb:BRAF
|
| gptkbp:result |
constitutive activation of BRAF protein
|
| gptkbp:target |
gptkb:encorafenib
gptkb:dabrafenib gptkb:vemurafenib |
| gptkbp:bfsParent |
gptkb:dabrafenib
gptkb:vemurafenib |
| gptkbp:bfsLayer |
6
|
| https://www.w3.org/2000/01/rdf-schema#label |
BRAF V600E mutation
|