Annotation Detail
Information
- Associated Genes
- PDGFRA
- Associated Variants
-
PDGFRA p.Val561Ala (p.V561A), ENSG00000282278 c.1018-56T>C
(
ENST00000257290.10 )
PDGFRA p.Val561Ala (p.V561A), ENSG00000282278 c.1018-56T>C ( ENST00000257290.10 ) - Associated Disease
- gastrointestinal stromal tumor
- Source Database
- CIViC Evidence
- Description
- 293T cells stably transduced with PDGFRA V561A showed constitutive tyrosine phosphorylation in the absense of ligand; however, when treated with imatinib, this phosphorylation was inhibited similarly to that of wildtype PDGFRA, consistent with sensitivity to this inhibitor.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/652
- Gene URL
- https://civic.genome.wustl.edu/links/genes/38
- Variant URL
- https://civic.genome.wustl.edu/links/variants/247
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Gastrointestinal Stromal Tumor
- Evidence Direction
- Supports
- Drug
- Imatinib
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 12949711
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Imatinib | Sensitivity | true |