Varaico: Literature-Extracted Genetic Variants

Gene:AGRP
Variant:p.E61K
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AGRP

NM_001138.2:p.E61K

Associated Papers

Deciphering deleterious missense variants in the MC4R gene in the pathogenesis of obesity.

El Fessikh M et al.

Endocrinologia, Diabetes Y Nutricion, 2025

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

Rescue of defective MC4R cell-surface expression and signaling by a novel pharmacoperone Ipsen 17.

Wang XH et al.

Journal of Molecular Endocrinology, 2014

Pharmacological chaperones restore function to MC4R mutants responsible for severe early-onset obesity.

René P et al.

The Journal of Pharmacology and Experimental Therapeutics, 2010

Functional characterization and structural modeling of obesity associated mutations in the melanocortin 4 receptor.

Tan K et al.

Endocrinology, 2009

Neuropeptide gene polymorphisms and human behavioural disorders.

Inui A

Nature Reviews. Drug Discovery, 2003

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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."