Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.R236G
Back to variants list

MC4R

NM_005912.3:p.R236G

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

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

Identification of a Rare and Potential Pathogenic MC4R Variant in a Brazilian Patient With Adulthood-Onset Severe Obesity.

Salum KCR et al.

Frontiers in Genetics, 2020

Gain-of-function variants in the melanocortin 4 receptor gene confer susceptibility to binge eating disorder in subjects with obesity: a systematic review and meta-analysis.

Qasim A et al.

Obesity Reviews : an Official Journal of the International Association for the Study of Obesity, 2019

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

Kleinendorst L et al.

Journal of Medical Genetics, 2018

Melanocortin 4 Receptor Pathway Dysfunction in Obesity: Patient Stratification Aimed at MC4R Agonist Treatment.

Ayers KL et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

Next-generation sequencing of the monogenic obesity genes LEP, LEPR, MC4R, PCSK1 and POMC in a Norwegian cohort of patients with morbid obesity and normal weight controls.

Nordang GBN et al.

Molecular Genetics and Metabolism, 2017

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

Genetics of human obesity.

Clément K

Comptes Rendus Biologies, 2006

A POMC variant implicates beta-melanocyte-stimulating hormone in the control of human energy balance.

Lee YS et al.

Cell Metabolism, 2006

Gene polymorphisms and their effects in the melanocortin system.

Carroll L et al.

Peptides, 2005

Melanocortin-4 receptor molecular scanning and pro-opiomelanocortin R236G variant screening in binge eating disorder.

Tortorella A et al.

Psychiatric Genetics, 2005

[Genetic variations in energy balance regulation].

Pankov IuA

Biomeditsinskaia Khimiia, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."