Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.C125R
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MC1R

NM_002386.4:p.C125R

Associated Papers

Sequence characterization and polymorphism of melanocortin 1 receptor gene in some goat breeds with different coat color of Mongolia.

Ganbold O et al.

Asian-australasian Journal of Animal Sciences, 2019

Genetic variations of the coding region of the melanocortin receptor 1 (MC1R) gene in the fox.

Liu Z et al.

Veterinary Dermatology, 2016

Recurrent evolution of melanism in South American felids.

Schneider A et al.

Plos Genetics, 2015

Ancient homology underlies adaptive mimetic diversity across butterflies.

Gallant JR et al.

Nature Communications, 2014

25198507 (PubMed )
Supplement: ncomms5817-s2.xlsx › Table_S5_-_selected_genes

Agouti signalling protein is an inverse agonist to the wildtype and agonist to the melanic variant of the melanocortin-1 receptor in the grey squirrel (Sciurus carolinensis).

McRobie HR et al.

Febs Letters, 2014

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

Hu HH et al.

Biomed Research International, 2014

Family of melanocortin receptor (MCR) genes in mammals-mutations, polymorphisms and phenotypic effects.

Switonski M et al.

Journal of Applied Genetics, 2013

Identification of the e allele at the Extension locus (MC1R) in Brazilian Creole sheep and its role in wool color variation.

Hepp D et al.

Genetics and Molecular Research : Gmr, 2012

A composite six bp in-frame deletion in the melanocortin 1 receptor (MC1R) gene is associated with the Japanese brindling coat colour in rabbits (Oryctolagus cuniculus).

Fontanesi L et al.

Bmc Genetics, 2010

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.

Fontanesi L et al.

Bmc Genetics, 2009

The loci of evolution: how predictable is genetic evolution?

Stern DL et al.

Evolution; International Journal of Organic Evolution, 2008

18616572 (PubMed )
Supplement: evo0062-2155-sd1.xls › included_only

Population-based study of natural variation in the melanocortin-1 receptor gene and melanoma.

Kanetsky PA et al.

Cancer Research, 2006

Melanocortin-1 receptor structure and functional regulation.

García-Borrón JC et al.

Pigment Cell Research, 2005

Association of feather colour with constitutively active melanocortin 1 receptors in chicken.

Ling MK et al.

European Journal of Biochemistry, 2003

Molecular genetics and evolution of melanism in the cat family.

Eizirik E et al.

Current Biology : Cb, 2003

Loss-of-function variants of the human melanocortin-1 receptor gene in melanoma cells define structural determinants of receptor function.

Sánchez Más J et al.

European Journal of Biochemistry, 2002

Melanocortin 1 receptor variation in the domestic dog.

Newton JM et al.

Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2000

Melanocortin receptor 1 (MC1R) mutations and coat color in pigs.

Kijas JM et al.

Genetics, 1998

A ligand-mimetic model for constitutive activation of the melanocortin-1 receptor.

Lu D et al.

Molecular Endocrinology (baltimore, Md.), 1998

A non-epistatic interaction of agouti and extension in the fox, Vulpes vulpes.

Våge DI et al.

Nature Genetics, 1997

Homologous pigmentation mutations in human, mouse and other model organisms.

Jackson IJ

Human Molecular Genetics, 1997

Independent nonframeshift deletions in the MC1R gene are not associated with melanistic coat coloration in three mustelid lineages.

Hosoda T et al.

The Journal of Heredity, 0

The genetic basis of melanism in the gray squirrel (Sciurus carolinensis).

McRobie H et al.

The Journal of Heredity, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."