Annotation Detail
Information
- Associated Genes
- MAPK1
- Associated Variants
-
MAPK1 MUTATION
MAPK1 MUTATION
MC1R p.Arg151Gly (p.R151G), ENSG00000198211 p.Arg151Gly (p.R151G) ( ENST00000555427.1, ENST00000639847.1, ENST00000555147.2 )
MC1R p.Arg151Cys (p.R151C), ENSG00000198211 p.Arg151Cys (p.R151C) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Arg160Trp (p.R160W), ENSG00000198211 p.Arg160Trp (p.R160W) ( ENST00000555147.2, ENST00000639847.1, ENST00000555427.1 )
MC1R p.Asp294Asn (p.D294N), ENSG00000198211 p.Asp294Asn (p.D294N) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Asp294His (p.D294H), ENSG00000198211 p.Asp294His (p.D294H) ( ENST00000639847.1, ENST00000555427.1, ENST00000555147.2 )
MC1R p.Arg151Gly (p.R151G), ENSG00000198211 p.Arg151Gly (p.R151G) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Arg151Cys (p.R151C), ENSG00000198211 p.Arg151Cys (p.R151C) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Arg160Trp (p.R160W), ENSG00000198211 p.Arg160Trp (p.R160W) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Asp294Asn (p.D294N), ENSG00000198211 p.Asp294Asn (p.D294N) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Asp294His (p.D294H), ENSG00000198211 p.Asp294His (p.D294H) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 ) - Associated Disease
- pheochromocytoma
- Source Database
- DisGeNET
- Description
- When expressed in rat pheochromocytoma cell line cells, the R151C, R160W and D294H MC1R variants associated with melanoma and impaired cAMP signalling mediated ERK activation and ERK-dependent, agonist-induced neurite outgrowth comparable with wild-type.
- Pubmed
- 19755124
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2009
Drugs