MC1R c.835A>G ;(p.N279D)

Variant ID: 16-89986501-A-G

NM_002386.3(MC1R):c.835A>G;(p.N279D)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Rare variants analysis of cutaneous malignant melanoma genes in Parkinson's disease.

Neurobiology Of Aging
Lubbe, S J SJ; Escott-Price, V V; Brice, A A; Gasser, T T; Pittman, A M AM; Bras, J J; Hardy, J J; Heutink, P P; Wood, N M NM; Singleton, A B AB; Grosset, D G DG; Carroll, C B CB; Law, M H MH; Demenais, F F; Iles, M M MM; , ; Bishop, D T DT; Newton-Bishop, J J; Williams, N M NM; Morris, H R HR; ,
Publication Date: 2016-12

Variant appearance in text: MC1R: N279D
PubMed Link: 27640074
Variant Present in the following documents:
  • mmc2.xlsx, sheet 5
View BVdb publication page



Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population.

The British Journal Of Dermatology
Puig-Butillé, J A JA; Carrera, C C; Kumar, R R; Garcia-Casado, Z Z; Badenas, C C; Aguilera, P P; Malvehy, J J; Nagore, E E; Puig, S S
Publication Date: 2013-10

Variant appearance in text: MC1R: 835A>G; N279D
PubMed Link: 23647022
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of MC1R variants and host phenotypes with melanoma risk in CDKN2A mutation carriers: a GenoMEL study.

Journal Of The National Cancer Institute
Demenais, F F; Mohamdi, H H; Chaudru, V V; Goldstein, A M AM; Newton Bishop, J A JA; Bishop, D T DT; Kanetsky, P A PA; Hayward, N K NK; Gillanders, E E; Elder, D E DE; Avril, M F MF; Azizi, E E; van Belle, P P; Bergman, W W; Bianchi-Scarrà, G G; Bressac-de Paillerets, B B; Calista, D D; Carrera, C C; Hansson, J J; Harland, M M; Hogg, D D; Höiom, V V; Holland, E A EA; Ingvar, C C; Landi, M T MT; Lang, J M JM; Mackie, R M RM; Mann, G J GJ; Ming, M E ME; Njauw, C J CJ; Olsson, H H; Palmer, J J; Pastorino, L L; Puig, S S; Randerson-Moor, J J; Stark, M M; Tsao, H H; Tucker, M A MA; van der Velden, P P; Yang, X R XR; Gruis, N N; ,
Publication Date: 2010-10-20

Variant appearance in text: MC1R: N279D
PubMed Link: 20876876
Variant Present in the following documents:
  • Main text
  • supp_djq363_JNCI-09-1449R-Suppl_tables.pdf
View BVdb publication page