Varaico: Literature-Extracted Genetic Variants

Gene:POMC
Variant:p.L250Q
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POMC

NM_000939.4:p.L250Q

Associated Papers

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

Long-term weight-loss in gastric bypass patients carrying melanocortin 4 receptor variants.

Moore BS et al.

Plos One, 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

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

Kobayashi H

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2006

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

Molecular mechanism of the constitutive activation of the L250Q human melanocortin-4 receptor polymorphism.

Proneth B et al.

Chemical Biology & Drug Design, 2006

Obesity-associated mutations in the human melanocortin-4 receptor gene.

MacKenzie RG

Peptides, 2006

Poor cell surface expression of human melanocortin-4 receptor mutations associated with obesity.

Nijenhuis WA et al.

The Journal of Biological Chemistry, 2003

Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity.

Vaisse C et al.

The Journal of Clinical Investigation, 2000

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