Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.A70T
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MC4R

NM_005912.3:p.A70T

Associated Papers

Exploring Autosomal Dominant Non-Syndromic Monogenic Obesity: From Genes to Therapy.

Luppino G et al.

Current Issues in Molecular Biology, 2026

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

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

Polymorphisms and mutations in the melanocortin-3 receptor and their relation to human obesity.

Demidowich AP 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

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

Stoy H et al.

Genes & Diseases, 2015

26229975 (PubMed )
Supplement: mmc1.docx

Biased signaling in naturally occurring mutations in human melanocortin-3 receptor gene.

Yang F et al.

International Journal of Biological Sciences, 2015

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

Doulla M et al.

Paediatrics & Child Health, 2014

Dissection of estrogen receptor alpha signaling pathways in osteoblasts using RNA-sequencing.

Roforth MM et al.

Plos One, 2014

Functional characterization of nine novel naturally occurring human melanocortin-3 receptor mutations.

Yang F et al.

Biochimica Et Biophysica Acta, 2012

The neuroendocrine circuitry controlled by POMC, MSH, and AGRP.

Biebermann H et al.

Handbook of Experimental Pharmacology, 2012

Identification of three novel genetic variants in the melanocortin-3 receptor of obese children.

Zegers D et al.

Obesity (silver Spring, Md.), 2011

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

Tao YX

Endocrine Reviews, 2010

The role of leptin-melanocortin system and human weight regulation: lessons from experiments of nature.

Lee YS

Annals of the Academy of Medicine, Singapore, 2009

Prevalence, spectrum, and functional characterization of melanocortin-4 receptor gene mutations in a representative population-based sample and obese adults from Germany.

Hinney A et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

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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."