MC1R c.478_480delinsTGT ;(p.R160C)

Variant ID: 16-89986144-CGG-TGT

NM_002386.3(MC1R):c.478_480delinsTGT;(p.R160C)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Behind the Scene: Exploiting MC1R in Skin Cancer Risk and Prevention.

Genes
Manganelli, Michele M; Guida, Stefania S; Ferretta, Anna A; Pellacani, Giovanni G; Porcelli, Letizia L; Azzariti, Amalia A; Guida, Gabriella G
Publication Date: 2021-07-19

Variant appearance in text: MC1R: R160C
PubMed Link: 34356109
Variant Present in the following documents:
  • Main text
  • genes-12-01093.pdf
View BVdb publication page



Widespread dynamic and pleiotropic expression of the melanocortin-1-receptor (MC1R) system is conserved across chick, mouse and human embryonic development.

Birth Defects Research
Thomas, Anna C AC; Heux, Pauline P; Santos, Chloe C; Arulvasan, Wisenave W; Solanky, Nita N; Carey, Magalie E ME; Gerrelli, Dianne D; Kinsler, Veronica A VA; Etchevers, Heather C HC
Publication Date: 2018-03-15

Variant appearance in text: MC1R: R160C
PubMed Link: 29316344
Variant Present in the following documents:
  • BDR2-110-443.pdf
View BVdb publication page



Some molecular and clinical aspects of genetic predisposition to malignant melanoma and tumours of various site of origin.

Hereditary Cancer In Clinical Practice
Debniak, Tadeusz T
Publication Date: 2007-06-15

Variant appearance in text: MC1R: R160C
PubMed Link: 19725989
Variant Present in the following documents:
  • Main text
  • 1897-4287-5-2-97.pdf
View BVdb publication page