Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.F201L
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MC4R

NM_005912.3:p.F201L

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

Melanocortin-4 receptor complexity in energy homeostasis,obesity and drug development strategies.

Fatima MT et al.

Diabetes, Obesity & Metabolism, 2022

Biased signaling in naturally occurring mutations of G protein-coupled receptors associated with diverse human diseases.

Yang LK et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021

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

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

Lotta LA et al.

Cell, 2019

Signal Transduction and Pathogenic Modifications at the Melanocortin-4 Receptor: A Structural Perspective.

Heyder N et al.

Frontiers in Endocrinology, 2019

31417496 (PubMed )
Supplement: Data_Sheet_1.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

A novel MC4R mutation associated with childhood-onset obesity: A case report.

Doulla M et al.

Paediatrics & Child Health, 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

Functional studies on twenty novel naturally occurring melanocortin-4 receptor mutations.

Wang ZQ et al.

Biochimica Et Biophysica Acta, 2011

The melanocortin-4 receptor: physiology, pharmacology, and pathophysiology.

Tao YX

Endocrine Reviews, 2010

Prevalence of melanocortin-4 receptor deficiency in Europeans and their age-dependent penetrance in multigenerational pedigrees.

Stutzmann F et al.

Diabetes, 2008

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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."