Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.T53I
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MC4R

NM_005912.3:p.T53I

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

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

Functional Characterization of MC4R Variants in Chinese Morbid Obese Patients and Weight Loss after Bariatric Surgery.

Gong Y et al.

Advanced Biology, 2023

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

Wade KH et al.

Nature Medicine, 2021

Human MC4R variants affect endocytosis, trafficking and dimerization revealing multiple cellular mechanisms involved in weight regulation.

Brouwers B et al.

Cell Reports, 2021

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

Collet TH et al.

Molecular Metabolism, 2017

29031731 (PubMed )
Supplement: mmc1.pdf
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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."