Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.A244V
Back to variants list

MC4R

NM_005912.3:p.A244V

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

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

Unreliability of genotyping arrays for detecting very rare variants in human genetic studies: Example from a recent study of MC4R.

Weedon MN et al.

Cell, 2021

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

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

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."