Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.I169S
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MC4R

NM_005912.3:p.I169S

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

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

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

Rovite V et al.

Molecular Biology Reports, 2014

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

Tao YX

Endocrine Reviews, 2010

A novel melanocortin-4 receptor gene mutation in a female patient with severe childhood obesity.

Roth CL et al.

Endocrine, 2009

Pharmacological characterization of 40 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists and the agouti-related protein (AGRP) antagonist.

Xiang Z et al.

Biochemistry, 2006

Gene polymorphisms and their effects in the melanocortin system.

Carroll L et al.

Peptides, 2005

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

Ho G et al.

The Journal of Biological Chemistry, 1999

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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."