MC1R c.779A>C ;(p.H260P)

Variant ID: 16-89986445-A-C

NM_002386.3(MC1R):c.779A>C;(p.H260P)

This variant was identified in 6 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: H260P
PubMed Link: 34356109
Variant Present in the following documents:
  • Main text
  • genes-12-01093.pdf
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: MC1R: H260P
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Nucleotide diversity and population differentiation of the melanocortin 1 receptor gene, MC1R.

Bmc Genetics
Savage, Sharon A SA; Gerstenblith, Meg R MR; Goldstein, Alisa M AM; Mirabello, Lisa L; Fargnoli, Maria Concetta MC; Peris, Ketty K; Landi, Maria Teresa MT
Publication Date: 2008-04-10

Variant appearance in text: MC1R: 779A>C; H260P
PubMed Link: 18402696
Variant Present in the following documents:
  • Main text
  • 1471-2156-9-31.pdf
View BVdb publication page



Role of MC1R variants in uveal melanoma.

British Journal Of Cancer
Hearle, N N; Humphreys, J J; Damato, B E BE; Wort, R R; Talaban, R R; Wixey, J J; Green, H H; Easton, D F DF; Houlston, R S RS
Publication Date: 2003-11-17

Variant appearance in text: MC1R: H260P
PubMed Link: 14612910
Variant Present in the following documents:
  • Main text
View BVdb publication page



Melanocortin-1 receptor variant R151C modifies melanoma risk in Dutch families with melanoma.

American Journal Of Human Genetics
van der Velden, P A PA; Sandkuijl, L A LA; Bergman, W W; Pavel, S S; van Mourik, L L; Frants, R R RR; Gruis, N A NA
Publication Date: 2001-10

Variant appearance in text: MC1R: H260P
PubMed Link: 11500806
Variant Present in the following documents:
  • Main text
View BVdb publication page



Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair.

American Journal Of Human Genetics
Bastiaens, M T MT; ter Huurne, J A JA; Kielich, C C; Gruis, N A NA; Westendorp, R G RG; Vermeer, B J BJ; Bavinck, J N JN; ,
Publication Date: 2001-04

Variant appearance in text: MC1R: His260Pro
PubMed Link: 11254446
Variant Present in the following documents:
  • Main text
View BVdb publication page