Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.A244G
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MC4R

NM_005912.3:p.A244G

Associated Papers

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

Evolutionary Identification of the Requirement of the Second Intracellular Loop for the Constitutive Activity of Melanocortin-4 Receptors.

Xu B et al.

Acs Pharmacology & Translational Science, 2024

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

Pleiotropic functions of the transmembrane domain 6 of human melanocortin-4 receptor.

Huang H et al.

Journal of Molecular Endocrinology, 2012

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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."