Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.A64S
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MC1R

NM_002386.4:p.A64S

Associated Papers

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

Evolution and phylogenetic utility of the melanocortin-1 receptor gene (MC1R) in Cetartiodactyla.

Ayoub NA et al.

Molecular Phylogenetics and Evolution, 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

Melanocortin-1 receptor structure and functional regulation.

García-Borrón JC et al.

Pigment Cell Research, 2005

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

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

Molecular analysis of a new splice variant of the human melanocortin-1 receptor.

Tan CP et al.

Febs Letters, 1999

Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans.

Valverde P et al.

Nature Genetics, 1995

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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."