The Pro162 variant is a loss-of-function mutation of the human melanocortin 1 receptor gene.
Jiménez-Cervantes
C
C
Olivares
C
C
González
P
P
Morandini
R
R
Ghanem
G
G
García-Borrón
J C
JC
D000818:Animals; D006801:Humans; D008545:Melanoma / Q000235:genetics*; D017354:Point Mutation; D018043:Receptors, Corticotropin / Q000235:genetics*; D044101:Receptors, Melanocortin; D012878:Skin Neoplasms / Q000235:genetics*; D014407:Tumor Cells, Cultured
D018043:Receptors, Corticotropin; D044101:Receptors, Melanocortin