MC1R c.373T>C ;(p.C125R)

Variant ID: 16-89986039-T-C

NM_002386.3(MC1R):c.373T>C;(p.C125R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Recurrent evolution of melanism in South American felids.

Plos Genetics
Schneider, Alexsandra A; Henegar, Corneliu C; Day, Kenneth K; Absher, Devin D; Napolitano, Constanza C; Silveira, Leandro L; David, Victor A VA; O'Brien, Stephen J SJ; Menotti-Raymond, Marilyn M; Barsh, Gregory S GS; Eizirik, Eduardo E
Publication Date: 2015-02

Variant appearance in text: MC1R: C125R
PubMed Link: 25695801
Variant Present in the following documents:
  • Main text
  • pgen.1004892.pdf
View BVdb publication page



A large French case-control study emphasizes the role of rare Mc1R variants in melanoma risk.

Biomed Research International
Hu, Hui-Han HH; Benfodda, Mériem M; Dumaz, Nicolas N; Gazal, Steven S; Descamps, Vincent V; Bourillon, Agnès A; Basset-Seguin, Nicole N; Riffault, Angélique A; Ezzedine, Khaled K; Bagot, Martine M; Bensussan, Armand A; Saiag, Philippe P; Grandchamp, Bernard B; Soufir, Nadem N
Publication Date: 2014

Variant appearance in text: MC1R: 373T>C; C125R
PubMed Link: 24982914
Variant Present in the following documents:
  • Main text
  • 925716.f1.pdf
  • BMRI2014-925716.pdf
View BVdb publication page



Missense and nonsense mutations in melanocortin 1 receptor (MC1R) gene of different goat breeds: association with red and black coat colour phenotypes but with unexpected evidences.

Bmc Genetics
Fontanesi, Luca L; Beretti, Francesca F; Riggio, Valentina V; Dall'Olio, Stefania S; González, Elena Gómez EG; Finocchiaro, Raffaella R; Davoli, Roberta R; Russo, Vincenzo V; Portolano, Baldassare B
Publication Date: 2009-08-25

Variant appearance in text: MC1R: C125R
PubMed Link: 19706191
Variant Present in the following documents:
  • 1471-2156-10-47.pdf
View BVdb publication page