Variant ID: 16-89986501-A-G

NM_002386.3(MC1R):c.835A>G;(p.Asn279Asp)

This variant was identified in 2 publications




Publications:


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

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

Variant appearance in text: MC1R: 835A>G; N279D
PubMed Link: 23647022
PubMed Central Link
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
F Demenais, H Mohamdi, V Chaudru, AM Goldstein, JA Newton Bishop, DT Bishop, PA Kanetsky, NK Hayward, E Gillanders, DE Elder, MF Avril, E Azizi, P van Belle, W Bergman, G Bianchi-Scarrà, B Bressac-de Paillerets, D Calista, C Carrera, J Hansson, M Harland, D Hogg, V Höiom, EA Holland, C Ingvar, MT Landi, JM Lang, RM Mackie, GJ Mann, ME Ming, CJ Njauw, H Olsson, J Palmer, L Pastorino, S Puig, J Randerson-Moor, M Stark, H Tsao, MA Tucker, P van der Velden, XR Yang, N Gruis,
Publication Date: 2010-10-20

Variant appearance in text: MC1R: N279D
PubMed Link: 20876876
PubMed Central Link
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000540694.1 n.1181A>G - non_coding_transcript_exon_variant 2/2 -
ENST00000554623.1 n.719T>C - non_coding_transcript_exon_variant 2/2 -
ENST00000555147.1 c.835A>G p.Asn279Asp missense_variant 1/1 -
ENST00000555427.1 c.835A>G p.Asn279Asp missense_variant 3/4 -
ENST00000556922.1 c.835A>G p.Asn279Asp missense_variant 1/5 -
NM_002386.3 c.835A>G p.Asn279Asp missense_variant 1/1 -