PMID: 26103569

MC1R gene variants and non-melanoma skin cancer: a pooled-analysis from the M-SKIP project.

British journal of cancer
E Tagliabue, MC Fargnoli, S Gandini, P Maisonneuve, F Liu, M Kayser, T Nijsten, J Han, R Kumar, NA Gruis, L Ferrucci, W Branicki, T Dwyer, L Blizzard, P Helsing, P Autier, JC García-Borrón, PA Kanetsky, MT Landi, J Little, J Newton-Bishop, F Sera, S Raimondi,
2015-07-14

8 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-89985844-G-T MC1R c.178G>T p.Val60Leu Missense 1/1 -
16-89986546-G-A MC1R c.880G>A p.Asp294Asn Missense 1/1 -
16-89985918-C-A MC1R c.252C>A p.Asp84Glu Missense 1/1 -
18-61323184-C-G SERPINB3 c.880G>C p.Asp294His Missense 8/8 -
16-89985940-G-A MC1R c.274G>A p.Val92Met Missense 1/1 -
16-89985918-C-G MC1R c.252C>G p.Asp84Glu Missense 1/1 -
16-89986130-T-C MC1R c.464T>C p.Ile155Thr Missense 1/1 -
16-89986091-G-A MC1R c.425G>A p.Arg142His Missense 1/1 -