Annotation Detail
Information
- Associated Genes
- CDK4
- Associated Variants
-
CDK4 p.Arg24Cys (p.R24C)
(
ENST00000549606.5,
ENST00000312990.10,
ENST00000257904.11 )
NRAS p.Gln61Glu (p.Q61E) ( ENST00000369535.5 )
NRAS p.Gln61Lys (p.Q61K) ( ENST00000369535.5 )
CDK4 p.Arg24Cys (p.R24C) ( ENST00000257904.11, ENST00000312990.10, ENST00000549606.5 )
NRAS p.Gln61Glu (p.Q61E) ( ENST00000369535.5 )
NRAS p.Gln61Lys (p.Q61K) ( ENST00000369535.5 ) - Associated Disease
- melanoma
- Source Database
- DisGeNET
- Description
- These results suggest a crucial role of keratinocytic RXRα to suppress formation of UVB-induced melanomas and their progression to malignant cancers in the context of driver mutations such as activated CDK4(R24C/R24C) or oncogenic NRAS(Q61K).
- Pubmed
- 25189354
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0614167218734491
- Year of publication
- 2015
Drugs