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
- In the case of CDK4, only one specific mutation, resulting in the substitution of a cysteine for an arginine at codon 24 (R24C), has been found to be associated with melanoma.
- Pubmed
- 9416844
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0614167218734491
- Year of publication
- 1997
Drugs