Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.Y80C
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MC4R

NM_005912.3:p.Y80C

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

Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits.

Bauer R et al.

Medrxiv : the Preprint Server for Health 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

Loss-of-function mutations in the melanocortin 4 receptor in a UK birth cohort.

Wade KH et al.

Nature Medicine, 2021

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

Collet TH et al.

Molecular Metabolism, 2017

Melanocortin-3-receptor gene variants in morbid obesity.

Schalin-Jäntti C et al.

International Journal of Obesity and Related Metabolic Disorders : Journal of the International Association for the Study of Obesity, 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."