Annotation Detail
Information
- Associated Genes
- KIT
- Associated Variants
-
KIT p.Leu577Pro (p.L577P)
(
ENST00000288135.6,
ENST00000412167.7,
ENST00000686011.1,
ENST00000687109.1,
ENST00000687246.1,
ENST00000687295.1,
ENST00000689832.1,
ENST00000689994.1,
ENST00000690543.1,
ENST00000692783.1 )
KIT p.Leu577Pro (p.L577P) ( ENST00000288135.6, ENST00000412167.7, ENST00000686011.1, ENST00000687109.1, ENST00000687246.1, ENST00000687295.1, ENST00000689832.1, ENST00000689994.1, ENST00000690543.1, ENST00000692783.1 ) - Associated Disease
- melanoma
- Source Database
- CIViC Evidence
- Description
- The melanoma cell line WM3211, which harbors the L576P mutation, is not sensitive to imatinib, nilotinib, and sorafenib. Molecular modeling indicated the L576P mutation alters the conformation of KIT and reduces the binding affinity of imatinib.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/34
- Gene URL
- https://civic.genome.wustl.edu/links/genes/29
- Variant URL
- https://civic.genome.wustl.edu/links/variants/72
- Rating
- 3
- Evidence Type
- Predictive
- Disease
- Melanoma
- Evidence Direction
- Supports
- Drug
- Nilotinib,Imatinib,Sorafenib
- Evidence Level
- D
- Clinical Significance
- Resistance
- Pubmed
- 19671763