Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.S136A
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MC4R

NM_005912.3:p.S136A

Associated Papers

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

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

The missense variation landscape of FTO, MC4R, and TMEM18 in obese children of African Ancestry.

Deliard S et al.

Obesity (silver Spring, Md.), 2013

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

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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."