Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.E42K
Back to variants list

MC4R

NM_005912.3:p.E42K

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

Gene variants and the response to childhood obesity interventions: A systematic review and meta-analysis.

Chen J et al.

Clinical Nutrition (edinburgh, Scotland), 2024

Two co-inherited novel SNPs in the MC4R gene related to live body weight and hormonal assays in Awassi and Arabi sheep breeds of Iraq.

Al-Thuwaini TM et al.

Veterinary Medicine and Science, 2021

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

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

Namjou B et al.

International Journal of Obesity (2005), 2021

32952152 (PubMed )
Supplement: 41366_2020_675_MOESM1_ESM.xlsx › Table_S2

Melanocortin 4 receptor (MC4R) gene variants in children and adolescents having familial early-onset obesity: genetic and clinical characteristics.

Aykut A et al.

European Journal of Pediatrics, 2020

Melanocortin-4 Receptor and Lipocalin 2 Gene Variants in Spanish Children with Abdominal Obesity: Effects on BMI-SDS After a Lifestyle Intervention.

Morell-Azanza L et al.

Nutrients, 2019

Early childhood BMI trajectories in monogenic obesity due to leptin, leptin receptor, and melanocortin 4 receptor deficiency.

Kohlsdorf K et al.

International Journal of Obesity (2005), 2018

Evaluation of a melanocortin-4 receptor (MC4R) agonist (Setmelanotide) in MC4R deficiency.

Collet TH et al.

Molecular Metabolism, 2017

29031731 (PubMed )
Supplement: mmc1.pdf

Prevalence and phenotypic characterization of MC4R variants in a large pediatric cohort.

Vollbach H et al.

International Journal of Obesity (2005), 2017

Limited polymorphisms of two Y-chromosomal SNPs in Chinese and Iranian sheep.

Zhang G et al.

Animal Genetics, 2012

Mechanism of N-terminal modulation of activity at the melanocortin-4 receptor GPCR.

Ersoy BA et al.

Nature Chemical Biology, 2012

Melanocortin-4 receptor polymorphisms in Turkish pediatric obese patients.

Demiralp DO et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2011

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."