Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.H260P
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MC1R

NM_002386.4:p.H260P

Associated Papers

Behind the Scene: Exploiting MC1R in Skin Cancer Risk and Prevention.

Manganelli M et al.

Genes, 2021

The role of MC1R gene variants and phenotypical features in predicting high nevus count.

van der Poel LAJ et al.

Melanoma Research, 2020

The Contribution of Neanderthals to Phenotypic Variation in Modern Humans.

Dannemann M et al.

American Journal of Human Genetics, 2017

28985494 (PubMed )
Supplement: mmc1.pdf

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › dbSNP

The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population.

Brudnik U et al.

Experimental Dermatology, 2009

Nucleotide diversity and population differentiation of the melanocortin 1 receptor gene, MC1R.

Savage SA et al.

Bmc Genetics, 2008

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

Gerstenblith MR et al.

Human Mutation, 2007

Cutaneous photoprotection and melanoma susceptibility: reaching beyond melanin content to the frontiers of DNA repair.

Kadekaro AL et al.

Frontiers in Bioscience : a Journal and Virtual Library, 2006

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

Tao YX

Pharmacology & Therapeutics, 2006

Melanocortin receptor-1 gene polymorphisms and the risk of cutaneous melanoma in a low-risk southern European population.

Stratigos AJ et al.

The Journal of Investigative Dermatology, 2006

[Genetic predisposition in cutaneous melanoma].

Avilés JA et al.

Actas Dermo-sifiliograficas, 2006

Contribution of melanocortin-1 receptor gene variants to sporadic cutaneous melanoma risk in a population in central Italy: a case-control study.

Fargnoli MC et al.

Melanoma Research, 2006

Detection of MC1R polymorphisms with protease-mediated allele-specific extension as an alternative to direct sequencing.

Käller M et al.

Clinical Chemistry, 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

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

Role of MC1R variants in uveal melanoma.

Hearle N et al.

British Journal of Cancer, 2003

The melanocortin-1-receptor gene is the major freckle gene.

Bastiaens M et al.

Human Molecular Genetics, 2001

Characterization of melanocortin-1 receptor gene variants in uveal melanoma patients.

Metzelaar-Blok JA et al.

Investigative Ophthalmology & Visual Science, 2001

Melanocortin 1 receptor (MC1R) gene variants are associated with an increased risk for cutaneous melanoma which is largely independent of skin type and hair color.

Kennedy C et al.

The Journal of Investigative Dermatology, 2001

Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair.

Bastiaens MT et al.

American Journal of Human Genetics, 2001

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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."