Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.E94K
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MC1R

NM_002386.4:p.E94K

Associated Papers

Living on the Rocks: Genomic Analysis of Limestone Langurs Provides Novel Insights into the Adaptive Evolution in Extreme Karst Environments.

Liu Z et al.

Genomics, Proteomics & Bioinformatics, 2025

Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.

Potjer TP et al.

International Journal of Cancer, 2019

30414346 (PubMed )
Supplement: IJC-144-2453-s001.doc

Human melanocortin 1 receptor-mediated ubiquitination of nonvisual arrestins. Role of Mahogunin Ring Finger 1 E3 ligase.

Abrisqueta M et al.

Biochimica Et Biophysica Acta. Molecular Cell Research, 2018

Potential Causative Mutation for Melanism in Rats Identified in the Agouti Signaling Protein Gene (Asip) of the Rattus rattus Species Complex on Okinawa Island, Japan.

Sasamori S et al.

Zoological Science, 2017

Functional status and relationships of melanocortin 1 receptor signaling to the cAMP and extracellular signal-regulated protein kinases 1 and 2 pathways in human melanoma cells.

Herraiz C et al.

The International Journal of Biochemistry & Cell Biology, 2012

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

Origin of agouti-melanistic polymorphism in Wild Black Rats (Rattus rattus) inferred from Mc1r gene sequences.

Kambe Y et al.

Zoological Science, 2011

N-glycosylation of the human melanocortin 1 receptor: occupancy of glycosylation sequons and functional role.

Herraiz C et al.

Pigment Cell & Melanoma Research, 2011

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

Benned-Jensen T et al.

Plos One, 2011

Melanocortin 1 receptor mutations impact differentially on signalling to the cAMP and the ERK mitogen-activated protein kinase pathways.

Herraiz C et al.

Febs Letters, 2009

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

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

Pointer MA et al.

Bmc Evolutionary Biology, 2008

Melanocortin-1 receptor structure and functional regulation.

García-Borrón JC et al.

Pigment Cell Research, 2005

Agonist-independent, high constitutive activity of the human melanocortin 1 receptor.

Sánchez-Más J et al.

Pigment Cell Research, 2004

Evolution of a pigmentation gene, the melanocortin-1 receptor, in primates.

Mundy NI et al.

American Journal of Physical Anthropology, 2003

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

Ling MK et al.

European Journal of Biochemistry, 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

Molecular basis for the interaction of [Nle4,D-Phe7]melanocyte stimulating hormone with the human melanocortin-1 receptor.

Yang Yk et al.

The Journal of Biological Chemistry, 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

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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."