Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.R305Q
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MC4R

NM_005912.3:p.R305Q

Associated Papers

Targeted Next-Generation Sequencing of the Leptin-Melanocortin Pathway in Severe Obesity.

Faccioli N et al.

Obesity (silver Spring, Md.), 2026

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

Impact of Bariatric Surgery on the Expression of Fertility-Related Genes in Obese Women: A Systematic Review of LEP, LEPR, MC4R, FTO, and POMC.

Voros C et al.

International Journal of Molecular Sciences, 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

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

Chen J et al.

Clinical Nutrition (edinburgh, Scotland), 2024

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

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

Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension.

Baron M et al.

Nature Medicine, 2019

31700171 (PubMed )
Supplement: EMS84473-supplement-Supplementary_Tables.pdf

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.

Flannick J et al.

Nature, 2019

31118516 (PubMed )
Supplement: 41586_2019_1231_MOESM1_ESM.pdf

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

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

Long-term weight-loss in gastric bypass patients carrying melanocortin 4 receptor variants.

Moore BS et al.

Plos One, 2014

Defect in MAPK signaling as a cause for monogenic obesity caused by inactivating mutations in the melanocortin-4 receptor gene.

He S et al.

International Journal of Biological Sciences, 2014

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

Association of functionally significant Melanocortin-4 but not Melanocortin-3 receptor mutations with severe adult obesity in a large North American case-control study.

Calton MA et al.

Human Molecular Genetics, 2009

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

Reinehr T et al.

Obesity (silver Spring, Md.), 2009

Definable somatic disorders in overweight children and adolescents.

Reinehr T et al.

The Journal of Pediatrics, 2007

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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."