Varaico: Literature-Extracted Genetic Variants

Gene:POMC
Variant:p.L44M
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POMC

NM_000939.4:p.L44M

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

MTSEA prevents ligand binding to the human melanocortin-4 receptor by modification of cysteine 130 in transmembrane helix 3.

Cox A et al.

Febs Letters, 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."