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, cutaneous malignant, susceptibility to, 3
- Source Database
- DisGeNET
- Description
- Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma.
- Pubmed
- 8528263
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- 1996
Drugs