Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.S36Y
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MC4R

NM_005912.3:p.S36Y

Associated Papers

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

Melanocortin 4 Receptor Pathway Dysfunction in Obesity: Patient Stratification Aimed at MC4R Agonist Treatment.

Ayers KL et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

29726959 (PubMed )
Supplement: jc.2018-00258.sd1.pdf

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

Stoy H et al.

Genes & Diseases, 2015

26229975 (PubMed )
Supplement: mmc1.docx

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

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

Biebermann H et al.

Handbook of Experimental Pharmacology, 2012

Pharmacological characterization of 30 human melanocortin-4 receptor polymorphisms with the endogenous proopiomelanocortin-derived agonists, synthetic agonists, and the endogenous agouti-related protein antagonist.

Xiang Z et al.

Biochemistry, 2010

In silico mutagenesis: a case study of the melanocortin 4 receptor.

Bromberg Y et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2009

Prevalence of mutations and functional analyses of melanocortin 4 receptor variants identified among 750 men with juvenile-onset obesity.

Larsen LH et al.

The Journal of Clinical Endocrinology and Metabolism, 2005

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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."