Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.L325F
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MC4R

NM_005912.3:p.L325F

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_S4

Impact of Bariatric Surgery on the Expression of Fertility-Related Genes in Obese Women: A Systematic Review of LEP, LEPR, MC4R, FTO, and POMC.

Voros C et al.

International Journal of Molecular Sciences, 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

Effects of Heterozygous Variants in the Leptin-Melanocortin Pathway on Roux-en-Y Gastric Bypass Outcomes: a 15-Year Case-Control Study.

Campos A et al.

Obesity Surgery, 2022

Human MC4R variants affect endocytosis, trafficking and dimerization revealing multiple cellular mechanisms involved in weight regulation.

Brouwers B et al.

Cell Reports, 2021

33761344 (PubMed )
Supplement: mmc2.xlsx › Table_S1

The role of polygenic susceptibility to obesity among carriers of pathogenic mutations in MC4R in the UK Biobank population.

Chami N et al.

Plos Medicine, 2020

32692746 (PubMed )
Supplement: pmed.1003196.s006.xlsx › S2_Table

Human Gain-of-Function MC4R Variants Show Signaling Bias and Protect against Obesity.

Lotta LA et al.

Cell, 2019

31002796 (PubMed )
Supplement: mmc1.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

How genetic errors in GPCRs affect their function: Possible therapeutic strategies.

Stoy H et al.

Genes & Diseases, 2015

26229975 (PubMed )
Supplement: mmc1.docx

A novel MC4R mutation associated with childhood-onset obesity: A case report.

Doulla M et al.

Paediatrics & Child Health, 2014

Defect in MAPK signaling as a cause for monogenic obesity caused by inactivating mutations in the melanocortin-4 receptor gene.

He S et al.

International Journal of Biological Sciences, 2014

The melanocortin-4 receptor: physiology, pharmacology, and pathophysiology.

Tao YX

Endocrine Reviews, 2010

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

Functional characterization and pharmacological rescue of melanocortin-4 receptor mutations identified from obese patients.

Fan ZC et al.

Journal of Cellular and Molecular Medicine, 2009

Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity.

Larsen LH et al.

The Journal of Clinical Endocrinology and Metabolism, 2005

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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."