MC1R c.880_882delinsAAG ;(p.D294K)

Variant ID: 16-89986546-GAC-AAG

NM_002386.3(MC1R):c.880_882delinsAAG;(p.D294K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic Variants and Somatic Alterations Associated with MITF-E318K Germline Mutation in Melanoma Patients.

Genes
Vergani, Elisabetta E; Frigerio, Simona S; Dugo, Matteo M; Devecchi, Andrea A; Feltrin, Erika E; De Cecco, Loris L; Vallacchi, Viviana V; Cossa, Mara M; Di Guardo, Lorenza L; Manoukian, Siranoush S; Peissel, Bernard B; Ferrari, Andrea A; Gallino, Gianfrancesco G; Maurichi, Andrea A; Rivoltini, Licia L; Sensi, Marialuisa M; Rodolfo, Monica M
Publication Date: 2021-09-18

Variant appearance in text: MC1R: D294K
PubMed Link: 34573422
Variant Present in the following documents:
  • Main text
  • genes-12-01440.pdf
View BVdb publication page



MC1R variants as melanoma risk factors independent of at-risk phenotypic characteristics: a pooled analysis from the M-SKIP project.

Cancer Management And Research
Tagliabue, Elena E; Gandini, Sara S; Bellocco, Rino R; Maisonneuve, Patrick P; Newton-Bishop, Julia J; Polsky, David D; Lazovich, DeAnn D; Kanetsky, Peter A PA; Ghiorzo, Paola P; Gruis, Nelleke A NA; Landi, Maria Teresa MT; Menin, Chiara C; Fargnoli, Maria Concetta MC; García-Borrón, Jose Carlos JC; Han, Jiali J; Little, Julian J; Sera, Francesco F; Raimondi, Sara S
Publication Date: 2018

Variant appearance in text: MC1R: D294K
PubMed Link: 29795986
Variant Present in the following documents:
  • Main text
  • cmar-10-1143.pdf
View BVdb publication page