Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.D146A
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MC4R

NM_005912.3:p.D146A

Associated Papers

Obesity due to MC4R deficiency is associated with reduced cholesterol, triglycerides and cardiovascular disease risk.

Zorn S et al.

Nature Medicine, 2025

41102563 (PubMed )
Supplement: 41591_2025_3976_MOESM2_ESM.xlsx › Table_S4

Structures of active melanocortin-4 receptor-Gs-protein complexes with NDP-α-MSH and setmelanotide.

Heyder NA et al.

Cell Research, 2021

Alanine Scanning Mutagenesis of the DRYxxI Motif and Intracellular Loop 2 of Human Melanocortin-4 Receptor.

Yang LK et al.

International Journal of Molecular Sciences, 2020

The role of the DRY motif of human MC4R for receptor activation.

Yamano Y et al.

Bioscience, Biotechnology, and Biochemistry, 2004

Descriptive analysis of MC4R gene variants associated with obesity listed on ClinVar.

Bayhaghi G et al.

Science Progress, 0

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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."