Varaico: Literature-Extracted Genetic Variants

Gene:POMC
Variant:p.D126A
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POMC

NM_000939.4:p.D126A

Associated Papers

Functional characterization of all missense variants in LEPR, PCSK1, and POMC genes arising from single-nucleotide variants.

Shah BP et al.

Expert Review of Endocrinology & Metabolism, 2023

36864747 (PubMed )
Supplement: supplement_1.zip › supple_PPL › PPL_Variant_Supp3-POMC-OR.xlsx › Sheet1

Functions of transmembrane domain 3 of human melanocortin-4 receptor.

Mo XL et al.

Journal of Molecular Endocrinology, 2012

Key amino acid residues in the melanocortin-4 receptor for nonpeptide THIQ specific binding and signaling.

Yang Y et al.

Regulatory Peptides, 2009

Engineering the melanocortin-4 receptor to control constitutive and ligand-mediated G(S) signaling in vivo.

Srinivasan S et al.

Plos One, 2007

Molecular interactions of nonpeptide agonists and antagonists with the melanocortin-4 receptor.

Fleck BA et al.

Biochemistry, 2005

Interactions of human melanocortin 4 receptor with nonpeptide and peptide agonists.

Pogozheva ID et al.

Biochemistry, 2005

Molecular determinants of ligand binding to the human melanocortin-4 receptor.

Yang YK et al.

Biochemistry, 2000

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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."