Annotation Detail
Information
- Associated Genes
- RHCE
- Associated Variants
-
RHCE MUTATION
RHCE MUTATION
MC1R p.Val60Leu (p.V60L), ENSG00000198211 p.Val60Leu (p.V60L) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Asp84Glu (p.D84E), ENSG00000198211 p.Asp84Glu (p.D84E) ( ENST00000555147.2, ENST00000639847.1, ENST00000555427.1 )
MC1R p.Asp84Glu (p.D84E), ENSG00000198211 p.Asp84Glu (p.D84E) ( ENST00000555427.1, ENST00000639847.1, ENST00000555147.2 )
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.Arg163Gln (p.R163Q), ENSG00000198211 p.Arg163Gln (p.R163Q) ( ENST00000639847.1, ENST00000555427.1, ENST00000555147.2 )
RHCE p.Leu60Ile (p.L60I) ( ENST00000294413.13, ENST00000349438.8, ENST00000346452.8, ENST00000413854.5, ENST00000349320.7, ENST00000340849.8 )
MC1R p.Val60Leu (p.V60L), ENSG00000198211 p.Val60Leu (p.V60L) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Asp84Glu (p.D84E), ENSG00000198211 p.Asp84Glu (p.D84E) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
MC1R p.Asp84Glu (p.D84E), ENSG00000198211 p.Asp84Glu (p.D84E) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
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.Arg163Gln (p.R163Q), ENSG00000198211 p.Arg163Gln (p.R163Q) ( ENST00000555147.2, ENST00000555427.1, ENST00000639847.1 )
RHCE p.Leu60Ile (p.L60I) ( ENST00000294413.13, ENST00000340849.8, ENST00000346452.8, ENST00000349320.7, ENST00000349438.8, ENST00000413854.5 ) - Associated Disease
- melanoma
- Source Database
- DisGeNET
- Description
- We aim to examine the influence of the MC1R variants (RHC: D84E, R151C, R160W; NRHC: V60L, R163Q and the synonymous polymorphism T314T) on the MM risk in a population from the Canary Islands.
- Pubmed
- 24170137
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2013
Drugs