Varaico: Literature-Extracted Genetic Variants

Gene:MC1R
Variant:p.S316A
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MC1R

NM_002386.4:p.S316A

Associated Papers

MC1R signaling. Intracellular partners and pathophysiological implications.

Herraiz C et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017

Differential and competitive regulation of human melanocortin 1 receptor signaling by β-arrestin isoforms.

Abrisqueta M et al.

Journal of Cell Science, 2013

N-glycosylation of the human melanocortin 1 receptor: occupancy of glycosylation sequons and functional role.

Herraiz C et al.

Pigment Cell & Melanoma Research, 2011

Melanocortin 1 receptor mutations impact differentially on signalling to the cAMP and the ERK mitogen-activated protein kinase pathways.

Herraiz C et al.

Febs Letters, 2009

Regulation of human melanocortin 1 receptor signaling and trafficking by Thr-308 and Ser-316 and its alteration in variant alleles associated with red hair and skin cancer.

Sánchez-Laorden BL et al.

The Journal of Biological Chemistry, 2007

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

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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."