Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.M281V
Back to variants list

MC4R

NM_005912.3:p.M281V

Associated Papers

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

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

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

Effect of interactions of polymorphisms in the Melanocortin-4 receptor gene with dietary factors on the risk of obesity and Type 2 diabetes: a systematic review.

Koochakpoor G et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2016

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

Doulla M et al.

Paediatrics & Child Health, 2014

Successful treatment with atomoxetine of an adolescent boy with attention deficit/hyperactivity disorder, extreme obesity, and reduced melanocortin 4 receptor function.

Pott W et al.

Obesity Facts, 2013

Do common variants separate between obese melanocortin-4 receptor gene mutation carriers and non-carriers? The impact of cryptic relatedness.

Mühlhaus J et al.

Hormone Research in Paediatrics, 2012

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

Tao YX

Endocrine Reviews, 2010

Lifestyle intervention in obese children with variations in the melanocortin 4 receptor gene.

Reinehr T et al.

Obesity (silver Spring, Md.), 2009

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."