PMID: 28842324

Associations of MC1R Genotype and Patient Phenotypes with BRAF and NRAS Mutations in Melanoma.

The Journal of investigative dermatology
Thomas, Nancy E NE, Edmiston, Sharon N SN, Kanetsky, Peter A PA, Busam, Klaus J KJ, Kricker, Anne A, Armstrong, Bruce K BK, Cust, Anne E AE, Anton-Culver, Hoda H, Gruber, Stephen B SB, Luo, Li L, Orlow, Irene I, Reiner, Anne S AS, Gallagher, Richard P RP, Zanetti, Roberto R, Rosso, Stefano S, Sacchetto, Lidia L, Dwyer, Terence T, Parrish, Eloise A EA, Hao, Honglin H, Gibbs, David C DC, Frank, Jill S JS, Ollila, David W DW, Begg, Colin B CB, Berwick, Marianne M, Conway, Kathleen K, ,

13 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
7-140453132-T-G BRAF c.1803A>C p.K601N Missense 15/18 -
7-140453132-T-A BRAF c.1803A>T p.K601N Missense 15/18 -
16-89986546-G-C MC1R c.880G>C p.D294H Missense 1/1 -
16-89986091-G-A MC1R c.425G>A p.R142H Missense 1/1 -
16-89985918-C-A MC1R c.252C>A p.D84E Missense 1/1 -
7-140453145-A-C BRAF c.1790T>G p.L597R Missense 15/18 -
7-140453135-CA-AT BRAF c.1799_1800delinsAT p.V600D Missense 15/18 -
7-140453145-AG-GA BRAF c.1789_1790delCTinsTC p.L597S Missense 15/18 -
16-89985918-C-G MC1R c.252C>G p.D84E Missense 1/1 -
7-140453185-G-A BRAF c.1750C>T p.L584F Missense 15/18 -
7-140453145-AG-TT BRAF c.1789_1790delCTinsAA p.L597K Missense 15/18 -
7-140453118-C-T BRAF c.1817G>A p.G606E Missense 15/18 -
7-140453127-C-T BRAF c.1808G>A p.R603Q Missense 15/18 -