Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.C271F
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MC4R

NM_005912.3:p.C271F

Associated Papers

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

The Outcome of Metabolic and Bariatric Surgery in Morbidly Obese Patients with Different Genetic Variants Associated with Obesity: A Systematic Review.

Zafirovska M et al.

Nutrients, 2024

Computational analysis of missense variants of human MC4R and childhood obesity.

Douiyeh I et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2023

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

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

Human Gain-of-Function MC4R Variants Show Signaling Bias and Protect against Obesity.

Lotta LA et al.

Cell, 2019

31002796 (PubMed )
Supplement: mmc1.pdf

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

Weight loss after Roux-en-Y gastric bypass in obese patients heterozygous for MC4R mutations.

Aslan IR et al.

Obesity Surgery, 2011

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

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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."