Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.N72K
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MC4R

NM_005912.3:p.N72K

Associated Papers

Unraveling the relationship between head circumference and MC4R deficiency from infancy to adulthood: a case-control study.

van der Walle EEPL et al.

Obesity (silver Spring, Md.), 2025

Genetic Insights into Severe Obesity: A Case Study of MC4R Variant Identification and Clinical Implications.

Imangaliyeva A et al.

Genes, 2025

High-resolution deep mutational scanning of the melanocortin-4 receptor enables target characterization for drug discovery.

Howard CJ et al.

Elife, 2025

40202051 (PubMed )
Supplement: elife-104725-supp1.xlsx › Supplementary_File_1b

Medical semiology of patients with monogenic obesity: A systematic review.

Renard E et al.

Obesity Reviews : an Official Journal of the International Association for the Study of Obesity, 2024

38956946 (PubMed )
Supplement: supplement_1.pdf

Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center.

Kleinendorst L et al.

Plos One, 2020

Signal Transduction and Pathogenic Modifications at the Melanocortin-4 Receptor: A Structural Perspective.

Heyder N et al.

Frontiers in Endocrinology, 2019

31417496 (PubMed )
Supplement: Data_Sheet_1.PDF

Pharmacological chaperones for the misfolded melanocortin-4 receptor associated with human obesity.

Huang H et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017

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

Functional characterization of a new human melanocortin-4 receptor homozygous mutation (N72K) that is associated with early-onset obesity.

Delhanty PJ et al.

Molecular Biology Reports, 2014

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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."