Annotation Detail
Information
- Associated Genes
- KDR
- Associated Variants
-
KDR p.Ala1065Thr (p.A1065T)
(
ENST00000263923.5 )
KDR p.Ala1065Thr (p.A1065T) ( ENST00000263923.5 ) - Associated Disease
- angiosarcoma
- Source Database
- CIViC Evidence
- Description
- COS-7 cells were transiently transfected with expression constructs encoding cDNAs for wild-type or A1065T-mutant KDR. Autophosphorylation was observed on tyrosine of mutant cells, but not wild-type cells, which were starved from serum for 6 hours without rhVEGF stimulation. Decreased phosphorylation in mutant cells was noted after treatment with either sunitinib or sorafenib.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/1106
- Gene URL
- https://civic.genome.wustl.edu/links/genes/3153
- Variant URL
- https://civic.genome.wustl.edu/links/variants/467
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Angiosarcoma
- Evidence Direction
- Supports
- Drug
- Sunitinib,Sorafenib
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 19723655