Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.C315G
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MC1R

NM_002386.4:p.C315G

Associated Papers

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

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

The melanocortin-1 receptor carboxyl terminal pentapeptide is essential for MC1R function and expression on the cell surface.

Sánchez-Más J et al.

Peptides, 2005

Evolution of a pigmentation gene, the melanocortin-1 receptor, in primates.

Mundy NI et al.

American Journal of Physical Anthropology, 2003

Cysteine residues are involved in structure and function of melanocortin 1 receptor: Substitution of a cysteine residue in transmembrane segment two converts an agonist to antagonist.

Frändberg PA et al.

Biochemical and Biophysical Research Communications, 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."