Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.R142C
Back to variants list

MC1R

NM_002386.4:p.R142C

Associated Papers

Detection of MC1R Genetic Variants and Their Association with Coat Color in Asian Goats.

Kawaguchi F et al.

Animals : an Open Access Journal From Mdpi, 2025

Identification of two new recessive MC1R alleles in red-coloured Evolèner cattle and other breeds.

Hauser M et al.

Animal Genetics, 2022

Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.

Moore BS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

34326492 (PubMed )
Supplement: NIHMS1754145-supplement-Supplemental_Table_2.xlsx › Sheet1

Melanocortin-1 receptor (MC1R) genotypes do not correlate with size in two cohorts of medium-to-giant congenital melanocytic nevi.

Calbet-Llopart N et al.

Pigment Cell & Melanoma Research, 2020

MC1R variants and associations with pigmentation characteristics and genetic ancestry in a Hispanic, predominately Puerto Rican, population.

Smit AK et al.

Scientific Reports, 2020

The p. R151C Polymorphism in MC1R Gene Modifies the Age of Onset in Spanish Huntington's Disease Patients.

Tell-Marti G et al.

Molecular Neurobiology, 2017

The MC1R melanoma risk variant p.R160W is associated with Parkinson disease.

Tell-Marti G et al.

Annals of Neurology, 2015

Modeling MC1R rare variants: a structural evaluation of variants detected in a Mediterranean case-control study.

Ibarrola-Villava M et al.

The Journal of Investigative Dermatology, 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

Distribution of MC1R variants among melanoma subtypes: p.R163Q is associated with lentigo maligna melanoma in a Mediterranean population.

Puig-Butillé JA et al.

The British Journal of Dermatology, 2013

Variants in melanocortin 1 receptor gene contribute to risk of melanoma--a direct sequencing analysis in a Texas population.

Guan X et al.

Pigment Cell & Melanoma Research, 2013

MC1R genotypes and risk of melanoma before age 40 years: a population-based case-control-family study.

Cust AE et al.

International Journal of Cancer, 2012

Melanocortin receptor 1 variants and melanoma risk: a study of 2 European populations.

Scherer D et al.

International Journal of Cancer, 2009

Role of key-regulator genes in melanoma susceptibility and pathogenesis among patients from South Italy.

Casula M et al.

Bmc Cancer, 2009

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

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

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

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."