Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.D117A
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MC1R

NM_002386.4:p.D117A

Associated Papers

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

Gerstenblith MR et al.

Human Mutation, 2007

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

Receptor-antagonist interactions in the complexes of agouti and agouti-related protein with human melanocortin 1 and 4 receptors.

Chai BX et al.

Biochemistry, 2005

Molecular basis for the interaction of [Nle4,D-Phe7]melanocyte stimulating hormone with the human melanocortin-1 receptor.

Yang Yk et al.

The Journal of Biological Chemistry, 1997

Characterisation of D117A and H260A mutations in the melanocortin 1 receptor.

Schiöth HB et al.

Molecular and Cellular Endocrinology, 1997

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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."