Annotation Detail

Information
Associated Genes
CDKN2A
Associated Variants
NRAS p.Gln61Leu (p.Q61L) ( ENST00000369535.5 )
NRAS p.Gln61Arg (p.Q61R) ( ENST00000369535.5 )
NRAS p.Gln61Pro (p.Q61P) ( ENST00000369535.5 )
NRAS p.Gln61Leu (p.Q61L) ( ENST00000369535.5 )
NRAS p.Gln61Arg (p.Q61R) ( ENST00000369535.5 )
NRAS p.Gln61Pro (p.Q61P) ( ENST00000369535.5 )
Associated Disease
melanoma
Source Database
DisGeNET
Description
These senescence phenotypes were p16(INK4A)- or p53-independent, however, several of them were suppressed by genetic or pharmacological inhibition of BRAF(V600E) or phosphoinositide 3-kinase pathways, including rapamycin-mediated inhibition of mTOR-raptor in NRAS(Q61R)-expressing melanoma cells.
Pubmed
18679422
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.36
Year of publication
2008
Drugs