Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.C40Y
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MC4R

NM_005912.3:p.C40Y

Associated Papers

Targeted Next-Generation Sequencing of the Leptin-Melanocortin Pathway in Severe Obesity.

Faccioli N et al.

Obesity (silver Spring, Md.), 2026

41451896 (PubMed )
Supplement: OBY-34-499-s001.xlsx › Variant_details

Rare variants in the melanocortin 4 receptor gene (MC4R) are associated with abdominal fat and insulin resistance in youth with obesity.

Galuppo B et al.

International Journal of Obesity (2005), 2025

Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency.

Collet TH et al.

Molecular Metabolism, 2017

29031731 (PubMed )
Supplement: mmc2.xlsx › Table_S2

Increased constraints on MC4R during primate and human evolution.

Hughes DA et al.

Human Genetics, 2009

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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."