Varaico: Literature-Extracted Genetic Variants

Gene:MC3R
Variant:p.D84E
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MC3R

NM_019888.3:p.D84E

Associated Papers

An overview of benefits and risks of chronic melanocortin-1 receptor activation.

Böhm M et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2025

MC1R is dispensable for the proteinuria reducing and glomerular protective effect of melanocortin therapy.

Qiao Y et al.

Scientific Reports, 2016

Melanocortin-1 receptor: loss of function mutations and skin cancer.

Mumm CD et al.

Dermatology Online Journal, 2006

Melanocortin-1 receptor structure and functional regulation.

García-Borrón JC et al.

Pigment Cell Research, 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

Assessment of polymorphic variants in the melanocortin-1 receptor gene with cutaneous pigmentation using an evolutionary approach.

Kanetsky PA et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2004

Characterization of melanocyte stimulating hormone receptor variant alleles in twins with red hair.

Box NF et al.

Human Molecular Genetics, 1997

Melanocortin 1 receptor variants: functional role and pigmentary associations.

Dessinioti C et al.

Photochemistry and Photobiology, 0

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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."