Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.P299S
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MC4R

NM_005912.3:p.P299S

Associated Papers

Distribution of Variants and Identification of Novel Variants in Patients with Obesity Using Next-Generation Sequencing in Genes Associated with Obesity: A Single-Center Experience in Turkey.

Anlas O et al.

Molecular Syndromology, 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

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

Synonymous single nucleotide polymorphisms in the MC4R gene that are significantly associated with milk production traits in water buffaloes.

Deng TX et al.

Genetics and Molecular Research : Gmr, 2016

SNPs of melanocortin 4 receptor (MC4R) associated with body weight in Beagle dogs.

Zeng R et al.

Experimental Animals, 2014

In silico mutagenesis: a case study of the melanocortin 4 receptor.

Bromberg Y et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2009

Detailed characterization of the porcine MC4R gene in relation to fatness and growth.

Fan B et al.

Animal Genetics, 2009

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

The human MC4R promoter: characterization and role in obesity.

Lubrano-Berthelier C et al.

Diabetes, 2003

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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."