Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.P230L
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MC4R

NM_005912.3:p.P230L

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

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

Mechanisms of Weight Control by Primary Cilia.

Lee CH et al.

Molecules and Cells, 2022

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

Fatima MT et al.

Diabetes, Obesity & Metabolism, 2022

Neuronal cilia in energy homeostasis.

Brewer KM et al.

Frontiers in Cell and Developmental Biology, 2022

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

Neuronal Cilia: Another Player in the Melanocortin System.

Varela L et al.

Trends in Molecular Medicine, 2018

Subcellular localization of MC4R with ADCY3 at neuronal primary cilia underlies a common pathway for genetic predisposition to obesity.

Siljee JE et al.

Nature Genetics, 2018

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

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

Doulla M et al.

Paediatrics & Child Health, 2014

The role of common and rare MC4R variants and FTO polymorphisms in extreme form of obesity.

Rovite V et al.

Molecular Biology Reports, 2014

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

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › dbSNP

Do common variants separate between obese melanocortin-4 receptor gene mutation carriers and non-carriers? The impact of cryptic relatedness.

Mühlhaus J et al.

Hormone Research in Paediatrics, 2012

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

Tao YX

Endocrine Reviews, 2010

Pertussis toxin-sensitive signaling of melanocortin-4 receptors in hypothalamic GT1-7 cells defines agouti-related protein as a biased agonist.

Büch TR et al.

The Journal of Biological Chemistry, 2009

Functional characterization and pharmacological rescue of melanocortin-4 receptor mutations identified from obese patients.

Fan ZC et al.

Journal of Cellular and Molecular Medicine, 2009

Role of third intracellular loop of the melanocortin 4 receptor in the regulation of constitutive activity.

Kim DH et al.

Biochemical and Biophysical Research Communications, 2008

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

Kobayashi H

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2006

Screening for melanocortin-4 receptor mutations in a cohort of Belgian morbidly obese adults and children.

Beckers S et al.

International Journal of Obesity (2005), 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

Large quantitative effect of melanocortin-4 receptor gene mutations on body mass index.

Dempfle A et al.

Journal of Medical Genetics, 2004

Binge-eating episodes are not characteristic of carriers of melanocortin-4 receptor gene mutations.

Hebebrand J et al.

Molecular Psychiatry, 2004

Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity.

Hinney A et al.

The Journal of Clinical Endocrinology and Metabolism, 2003

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