Annotation Detail
Information
- Associated Genes
- KIT
- Associated Variants
-
KIT p.Ser629Asn (p.S629N)
(
ENST00000288135.6,
ENST00000412167.7,
ENST00000686011.1,
ENST00000687109.1,
ENST00000687246.1,
ENST00000687295.1,
ENST00000689832.1,
ENST00000689994.1,
ENST00000690543.1,
ENST00000692783.1 )
KIT p.Ser629Asn (p.S629N) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 ) - Associated Disease
- cancer
- Source Database
- CIViC Evidence
- Description
- In an in vitro study, COS-7 cells expressing KIT S628N activating mutation demonstrated sensitivity to imatinib and dasatinib treatments when compared to the KIT L576P, which was used as an imatinib-sensitive control. Sensitivity was determined by assessing reduced mutant KIT auto-phosphorylation via western blotting with addition of inhibitors.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/4791
- Gene URL
- https://civic.genome.wustl.edu/links/genes/29
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1659
- Rating
- 2
- Evidence Type
- Predictive
- Disease
- Cancer
- Evidence Direction
- Supports
- Drug
- Dasatinib,Imatinib
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 25317746