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
- Hereditary Melanoma
- Source Database
- DisGeNET
- Description
- This mutation (replacement of Arg24 by Cys) was first found in patients with hereditary melanoma and renders Cdk4 insensitive to INK4 inhibitors.
- Pubmed
- 11726500
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.124885953697445
- Year of publication
- 2001
Drugs