Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.R162P
Back to variants list

MC1R

NM_002386.4:p.R162P

Associated Papers

A Side-by-Side Comparison of Wildtype and Variant Melanocortin 1 Receptor Signaling with Emphasis on Protection against Oxidative Damage to DNA.

Cerdido S et al.

International Journal of Molecular Sciences, 2023

The protective role of MC1R in chromosome stability and centromeric integrity in melanocytes.

Li X et al.

Cell Death Discovery, 2021

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

Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population.

Shahzad M et al.

Pigment Cell & Melanoma Research, 2015

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

MC1R is a potent regulator of PTEN after UV exposure in melanocytes.

Cao J et al.

Molecular Cell, 2013

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

Selected melanocortin 1 receptor single-nucleotide polymorphisms differentially alter multiple signaling pathways.

Doyle JR et al.

The Journal of Pharmacology and Experimental Therapeutics, 2012

Association of Mc1r variants with ecologically relevant phenotypes in the European ocellated lizard, Lacerta lepida.

Nunes VL et al.

Journal of Evolutionary Biology, 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

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

Aberrant trafficking of human melanocortin 1 receptor variants associated with red hair and skin cancer: Steady-state retention of mutant forms in the proximal golgi.

Sánchez-Laorden BL et al.

Journal of Cellular Physiology, 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

Variations of melanocortin receptor 1 (MC1R) gene in three pig breeds.

Dun G et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2007

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

Gerstenblith MR et al.

Human Mutation, 2007

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

[Genetic predisposition in cutaneous melanoma].

Avilés JA et al.

Actas Dermo-sifiliograficas, 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

MC1R and the response of melanocytes to ultraviolet radiation.

Rouzaud F et al.

Mutation Research, 2005

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

Sánchez-Más J et al.

Pigment Cell Research, 2004

Melanocortin 1 receptor (MC1R) gene variants may increase the risk of melanoma in France independently of clinical risk factors and UV exposure.

Matichard E et al.

Journal of Medical Genetics, 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

The Pro162 variant is a loss-of-function mutation of the human melanocortin 1 receptor gene.

Jiménez-Cervantes C et al.

The Journal of Investigative Dermatology, 2001

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."