Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.M215R
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MC4R

NM_005912.3:p.M215R

Associated Papers

Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk.

Zorn S et al.

Nature Medicine, 2025

41102563 (PubMed )
Supplement: 41591_2025_3976_MOESM2_ESM.xlsx › Table_S1

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

MC4R Variants Modulate α-MSH and Setmelanotide Induced Cellular Signaling at Multiple Levels.

Rodríguez Rondón AV et al.

The Journal of Clinical Endocrinology and Metabolism, 2024

Sequencing methods, functional characterization, prevalence, and penetrance of rare coding mutations in panels of monogenic obesity genes from the leptin-melanocortin pathway: A systematic review.

Dosda S et al.

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

38779716 (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

Genetic obesity: next-generation sequencing results of 1230 patients with obesity.

Kleinendorst L et al.

Journal of Medical Genetics, 2018

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
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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."