Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.R236H
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MC4R

NM_005912.3:p.R236H

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

Genetic Variability of Loci Affecting Meat Quality and Production in Nero Siciliano Pig Breed.

Tumino S et al.

Animals : an Open Access Journal From Mdpi, 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

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

Namjou B et al.

International Journal of Obesity (2005), 2021

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

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

Family of melanocortin receptor (MCR) genes in mammals-mutations, polymorphisms and phenotypic effects.

Switonski M et al.

Journal of Applied Genetics, 2013

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

Tao YX

Endocrine Reviews, 2010

Genetics of fat tissue accumulation in pigs: a comparative approach.

Switonski M et al.

Journal of Applied Genetics, 2010

Detailed characterization of the porcine MC4R gene in relation to fatness and growth.

Fan B et al.

Animal Genetics, 2009

Pharmacological analyses of two naturally occurring porcine melanocortin-4 receptor mutations in domestic pigs.

Fan ZC et al.

Domestic Animal Endocrinology, 2008

Association of the melanocortin 4 receptor with feed intake and daily gain in F2 Mangalitsa x Piétrain pigs.

Meidtner K et al.

Animal Genetics, 2006

Prevalence, spectrum, and functional characterization of melanocortin-4 receptor gene mutations in a representative population-based sample and obese adults from Germany.

Hinney A et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

Investigating genetic variants in early-onset obesity through exome sequencing: A retrospective cohort study.

Liu D et al.

Obesity Research & Clinical Practice, 0

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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."