PMID: 26807515

Histologic and Phenotypic Factors and MC1R Status Associated with BRAF(V600E), BRAF(V600K), and NRAS Mutations in a Community-Based Sample of 414 Cutaneous Melanomas.

The Journal of investigative dermatology
E Hacker, CM Olsen, M Kvaskoff, N Pandeya, A Yeo, AC Green, RM Williamson, J Triscott, D Wood, R Mortimore, NK Hayward, DC Whiteman

7 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
16-89986091-G-A MC1R c.425G>A p.Arg142His Missense 1/1 -
16-89985918-C-G MC1R c.252C>G p.Asp84Glu Missense 1/1 -
16-89985844-G-T MC1R c.178G>T p.Val60Leu Missense 1/1 -
16-89985940-G-A MC1R c.274G>A p.Val92Met Missense 1/1 -
16-89985918-C-A MC1R c.252C>A p.Asp84Glu Missense 1/1 -
16-89986154-G-A MC1R c.488G>A p.Arg163Gln Missense 1/1 -
16-89986130-T-C MC1R c.464T>C p.Ile155Thr Missense 1/1 -