PMID: 26103569

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

British journal of cancer

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

2015-07-14

6 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
16-89985918-C-G	MC1R	c.252C>G	p.D84E	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	-
16-89986130-T-C	MC1R	c.464T>C	p.I155T	Missense	1/1	-
16-89986546-G-A	MC1R	c.880G>A	p.D294N	Missense	1/1	-
18-61323184-C-G	SERPINB3	c.880G>C	p.D294H	Missense	8/8	-