Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.T248A
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MC4R

NM_005912.3:p.T248A

Associated Papers

Evaluation of the MC4R gene across eMERGE network identifies many unreported obesity-associated variants.

Namjou B et al.

International Journal of Obesity (2005), 2021

Melanocortin 4 Receptor Pathway Dysfunction in Obesity: Patient Stratification Aimed at MC4R Agonist Treatment.

Ayers KL et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

29726959 (PubMed )
Supplement: jc.2018-00258.sd1.pdf

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

Molecular characterization of human melanocortin-5 receptor ligand-receptor interaction.

Yang Y et al.

Biochemistry, 2013

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."