PMID: 28842324

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

The Journal of investigative dermatology
NE Thomas, SN Edmiston, PA Kanetsky, KJ Busam, A Kricker, BK Armstrong, AE Cust, H Anton-Culver, SB Gruber, L Luo, I Orlow, AS Reiner, RP Gallagher, R Zanetti, S Rosso, L Sacchetto, T Dwyer, EA Parrish, H Hao, DC Gibbs, JS Frank, DW Ollila, CB Begg, M Berwick, K Conway,

14 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
7-140453144-T-C BRAF c.1791A>G p.Leu597Leu Synonymous 15/18 -
16-89986144-C-T MC1R c.478C>T p.Arg160Trp Missense 1/1 -
16-89986091-G-A MC1R c.425G>A p.Arg142His Missense 1/1 -
7-140453146-G-A BRAF c.1789C>T p.Leu597Leu Synonymous 15/18 -
16-89985918-C-G MC1R c.252C>G p.Asp84Glu Missense 1/1 -
16-89985918-C-A MC1R c.252C>A p.Asp84Glu Missense 1/1 -
7-140453132-T-G BRAF c.1803A>C p.Lys601Asn Missense 15/18 -
7-140453132-T-A BRAF c.1803A>T p.Lys601Asn Missense 15/18 -
7-140453185-G-A BRAF c.1750C>T p.Leu584Phe Missense 15/18 -
7-140453118-C-T BRAF c.1817G>A p.Gly606Glu Missense 15/18 -
7-140453145-AG-TC BRAF c.1789_1790delCTinsTC p.Leu597Ser Missense 15/18 -
16-89986546-G-C MC1R c.880G>C p.Asp294His Missense 1/1 -
7-140453145-A-C BRAF c.1790T>G p.Leu597Arg Missense 15/18 -
7-140453127-C-T BRAF c.1808G>A p.Arg603Gln Missense 15/18 -