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, ,

2017-12

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	-