Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.S329A
Back to variants list

MC4R

NM_005912.3:p.S329A

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

Constitutive cholesterol-dependent endocytosis of melanocortin-4 receptor (MC4R) is essential to maintain receptor responsiveness to α-melanocyte-stimulating hormone (α-MSH).

McDaniel FK et al.

The Journal of Biological Chemistry, 2012

Regulation of melanocortin-4 receptor signaling: agonist-mediated desensitization and internalization.

Shinyama H et al.

Endocrinology, 2003

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."