Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.Y287*
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MC4R

NM_005912.3:p.Y287*

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

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

Lotta LA et al.

Cell, 2019

31002796 (PubMed )
Supplement: mmc1.pdf

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

How genetic errors in GPCRs affect their function: Possible therapeutic strategies.

Stoy H et al.

Genes & Diseases, 2015

26229975 (PubMed )
Supplement: mmc1.docx

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

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

Tao YX

Endocrine Reviews, 2010

[Melanocortin-4 receptor gene mutations associated with obesity].

Kobayashi H

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2006

Obesity-associated mutations in the human melanocortin-4 receptor gene.

MacKenzie RG

Peptides, 2006

Gene polymorphisms and their effects in the melanocortin system.

Carroll L et al.

Peptides, 2005

Molecular mechanisms of the neural melanocortin receptor dysfunction in severe early onset obesity.

Tao YX

Molecular and Cellular Endocrinology, 2005

Functional characterization of melanocortin-4 receptor mutations associated with childhood obesity.

Tao YX et al.

Endocrinology, 2003

Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms.

Yeo GS et al.

Human Molecular Genetics, 2003

[Genetic variations in energy balance regulation].

Pankov IuA

Biomeditsinskaia Khimiia, 0

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."