Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.L93R
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MC1R

NM_002386.4:p.L93R

Associated Papers

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

MC1R, the cAMP pathway, and the response to solar UV: extending the horizon beyond pigmentation.

García-Borrón JC et al.

Pigment Cell & Melanoma Research, 2014

Melanoma risk associated with MC1R gene variants in Latvia and the functional analysis of rare variants.

Ozola A et al.

Cancer Genetics, 2013

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

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

Herraiz C et al.

Pigment Cell & Melanoma Research, 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

Identification and functional analysis of novel variants of the human melanocortin 1 receptor found in melanoma patients.

Pérez Oliva AB et al.

Human Mutation, 2009

Comprehensive evaluation of allele frequency differences of MC1R variants across populations.

Gerstenblith MR et al.

Human Mutation, 2007

Melanocortin-1 receptor: loss of function mutations and skin cancer.

Mumm CD et al.

Dermatology Online Journal, 2006

Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.

Tao YX

Pharmacology & Therapeutics, 2006

Variant amino acids in different domains of the human melanocortin 1 receptor impair cell surface expression.

Sánchez-Laorden BL et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2006

Effect of MELANOTAN, [Nle(4), D-Phe(7)]-alpha-MSH, on melanin synthesis in humans with MC1R variant alleles.

Fitzgerald LM et al.

Peptides, 2006

Dimerization of the human melanocortin 1 receptor: functional consequences and dominant-negative effects.

Sánchez-Laorden BL et al.

The Journal of Investigative Dermatology, 2006

Melanocortin-1 receptor structure and functional regulation.

García-Borrón JC et al.

Pigment Cell Research, 2005

The relation between melanocortin 1 receptor (MC1R) variation and the generation of phenotypic diversity in the cutaneous response to ultraviolet radiation.

Wong TH et al.

Peptides, 2005

Pharmacological characterization of loss of function mutations of the human melanocortin 1 receptor that are associated with red hair.

Ringholm A et al.

The Journal of Investigative Dermatology, 2004

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

Sánchez-Más J et al.

Pigment Cell Research, 2004

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

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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."