Annotation Detail
Information
- Associated Genes
- PDGFRA
- Associated Variants
-
PDGFRA p.Arg841Lys (p.R841K), ENSG00000282278 p.Arg601Lys (p.R601K)
(
ENST00000257290.10 )
PDGFRA p.Arg841Lys (p.R841K), ENSG00000282278 p.Arg601Lys (p.R601K) ( ENST00000257290.10 ) - Associated Disease
- melanoma
- Source Database
- CIViC Evidence
- Description
- Five PDGFRA Mutations (P577S, V658A, R841K, H845Y, and G853D) resulted in strong autophosphorylation of PDGFRA. Crenolanib showed higher potency than imatinib in inhibiting the kinase activity of PDGFRA. Except for the imatinib-resistant V658A mutation, all the other mutations were sensitive to both imatinib and crenolanib.
- Variant Origin
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1975
- Gene URL
- https://civic.genome.wustl.edu/links/genes/38
- Variant URL
- https://civic.genome.wustl.edu/links/variants/863
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Melanoma
- Evidence Direction
- Supports
- Drug
- Crenolanib,Imatinib
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 24132921
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Crenolanib | Sensitivity | true |
| Imatinib | Sensitivity | true |