Annotation Detail

Information
Associated Genes
CDK4
Associated Variants
CDK4 p.Arg24Cys (p.R24C) ( ENST00000549606.5, ENST00000312990.10, ENST00000257904.11 )
CDK4 p.Arg24Cys (p.R24C) ( ENST00000257904.11, ENST00000312990.10, ENST00000549606.5 )
Associated Disease
melanoma
Source Database
DisGeNET
Description
We previously showed that mice carrying an activated Cdk4 mutation together with melanocyte-specific mutant Hras (Cdk4(R24C/R24C)/TPras) develop melanoma spontaneously, but penetrance is increased and age of onset reduced after neonatal ultraviolet radiation (UVR) exposure.
Pubmed
18386818
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0614167218734491
Year of publication
2008
Drugs