Annotation Detail
Information
- Associated Genes
- CDKN2A
- 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
- A mutation of the p16(INK4a)-binding domain of the cyclin dependent kinase 4 (CDK4) gene, R24C, has been reported in some cases of melanoma.
- Pubmed
- 12731669
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- 2003
Drugs