Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.P299L
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MC4R

NM_005912.3:p.P299L

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

Computational analysis of missense variants of human MC4R and childhood obesity.

Douiyeh I et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2023

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

Functional characterization of variants in MC4R gene promoter region found in obese children.

Tan KM et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

[Obesity caused by melanocortin-4 receptor mutations].

van den Berg L et al.

Nederlands Tijdschrift Voor Geneeskunde, 2012

Melanocortin-4 receptor gene mutations in a Dutch cohort of obese children.

van den Berg L et al.

Obesity (silver Spring, Md.), 2011

Pharmacological characterization of 30 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists, synthetic agonists, and the endogenous agouti-related protein antagonist.

Xiang Z et al.

Biochemistry, 2010

Identification and characterization of melanocortin-4 receptor gene mutations in morbidly obese finnish children and adults.

Valli-Jaakola K et al.

The Journal of Clinical Endocrinology and Metabolism, 2004

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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."