Annotation Detail
Information
- Associated Genes
- KIT
- Associated Variants
-
KIT p.Val560Asp (p.V560D)
(
ENST00000288135.6,
ENST00000412167.7,
ENST00000686011.1,
ENST00000687109.1,
ENST00000687246.1,
ENST00000687295.1,
ENST00000689832.1,
ENST00000689994.1,
ENST00000690543.1,
ENST00000692783.1 )
KIT p.Val560Asp (p.V560D) ( ENST00000690543.1, ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000692783.1 ) - Associated Disease
- cancer
- Source Database
- CIViC Evidence
- Description
- KIT(V559D) were expressed in HEK-293 cells (in vitro). Imatinib, BMS-354825, PD-180970, MLN-518, and SU-11248 bind variant V559D with high affinity (Kd =< 20 nM), and inhibit KIT autophosphorylation. Despite similar binding affinities, the cellular activity of BMS-354825 was >10-fold greater than that of SU-11248 or PD-180970, and the authors hypothesize that additional pharmaceutical properties may contribute to the greater cellular potency.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/3029
- Gene URL
- https://civic.genome.wustl.edu/links/genes/29
- Variant URL
- https://civic.genome.wustl.edu/links/variants/968
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Cancer
- Evidence Direction
- Supports
- Drug
- Tandutinib,PD-180970,Sunitinib,Dasatinib,Imatinib
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 16046538
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Dasatinib | Sensitivity | true |
| Imatinib | Sensitivity | true |
| PD-180970 | Sensitivity | true |
| Sunitinib | Sensitivity | true |
| Tandutinib | Sensitivity | true |