Annotation Detail
Information
- Associated Genes
- KIT
- Associated Variants
-
KIT p.Asn823Lys (p.N823K)
(
ENST00000288135.6,
ENST00000412167.7,
ENST00000686011.1,
ENST00000687246.1,
ENST00000687109.1,
ENST00000687295.1,
ENST00000689832.1,
ENST00000689994.1,
ENST00000690543.1,
ENST00000692783.1 )
KIT p.Asn823Lys (p.N823K) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 ) - Associated Disease
- acute myeloid leukemia
- Source Database
- CIViC Evidence
- Description
- In a preclinical trial, the AML cell line Kasumi-1 with the KIT mutation N822K was treated with the tyrosine kinase inhibitors (TKI) ponatinib, sorafenib, and sunitinib. Ponatinib was much more effective in the growth inhibition of cells harboring the KIT mutation (IC50=8 nmol/L) compared to sorafenib (IC50=59 nmol/L) and sunitinib (IC50=56 nmol/L).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/7370
- Gene URL
- https://civic.genome.wustl.edu/links/genes/29
- Variant URL
- https://civic.genome.wustl.edu/links/variants/1263
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Acute Myeloid Leukemia
- Evidence Direction
- Does Not Support
- Drug
- Sunitinib,Sorafenib
- Evidence Level
- D
- Clinical Significance
- Sensitivity/Response
- Pubmed
- 21482694