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
DisGeNET
Description
Activity of dasatinib against L576P KIT mutant melanoma: molecular, cellular, and clinical correlates.
Pubmed
19671763
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0680271347168254
Year of publication
2009
Drugs