MC1R c.280G>A ;(p.E94K)

Variant ID: 16-89985946-G-A

NM_002386.3(MC1R):c.280G>A;(p.E94K)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Examining the molecular basis of coat color in a nocturnal primate family (Lorisidae).

Ecology And Evolution
Munds, Rachel A RA; Titus, Chelsea L CL; Moreira, Lais A A LAA; Eggert, Lori S LS; Blomquist, Gregory E GE
Publication Date: 2021-05

Variant appearance in text: MC1R: E94K
PubMed Link: 33976821
Variant Present in the following documents:
  • Main text
View BVdb publication page



The E92K melanocortin 1 receptor mutant induces cAMP production and arrestin recruitment but not ERK activity indicating biased constitutive signaling.

Plos One
Benned-Jensen, Tau T; Mokrosinski, Jacek J; Rosenkilde, Mette M MM
Publication Date: 2011

Variant appearance in text: MC1R: E94K
PubMed Link: 21931793
Variant Present in the following documents:
  • Main text
  • pone.0024644.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: E94K
PubMed Link: 19706191
Variant Present in the following documents:
  • 1471-2156-10-47.pdf
View BVdb publication page



Testing whether macroevolution follows microevolution: are colour differences among swans (Cygnus) attributable to variation at the MCIR locus?

Bmc Evolutionary Biology
Pointer, Marie A MA; Mundy, Nicholas I NI
Publication Date: 2008-09-12

Variant appearance in text: MC1R: E94K
PubMed Link: 18789136
Variant Present in the following documents:
  • Main text
  • 1471-2148-8-249.pdf
View BVdb publication page