Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.F280L
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MC4R

NM_005912.3:p.F280L

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

Deciphering deleterious missense variants in the MC4R gene in the pathogenesis of obesity.

El Fessikh M et al.

Endocrinologia, Diabetes Y Nutricion, 2025

SHU9119 and MBP10 are biased ligands at the human melanocortin-4 receptor.

Dai HC et al.

Biochemical Pharmacology, 2024

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

A unique melanocortin-4-receptor signaling profile for obesity-associated constitutively active variants.

Botha R et al.

Journal of Molecular Endocrinology, 2023

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

Brouwers B et al.

Cell Reports, 2021

33761344 (PubMed )
Supplement: mmc2.xlsx › Table_S1

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

Pharmacological chaperones for the misfolded melanocortin-4 receptor associated with human obesity.

Huang H et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017

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

Activation of MAPK by inverse agonists in six naturally occurring constitutively active mutant human melanocortin-4 receptors.

Mo XL et al.

Biochimica Et Biophysica Acta, 2013

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

Wang ZQ et al.

Biochimica Et Biophysica Acta, 2011

Identification and functional characterization of novel mutations in the melanocortin-4 receptor.

Beckers S et al.

Obesity Facts, 2010

Descriptive analysis of MC4R gene variants associated with obesity listed on ClinVar.

Bayhaghi G et al.

Science Progress, 0

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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."