Varaico: Literature-Extracted Genetic Variants

Gene:MC4R
Variant:p.V193V
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MC4R

NM_005912.3:p.V193V

Associated Papers

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

Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally relevant mutations are compatible with a major gene effect for extreme obesity.

Hinney A et al.

The Journal of Clinical Endocrinology and Metabolism, 2003

Poor cell surface expression of human melanocortin-4 receptor mutations associated with obesity.

Nijenhuis WA et al.

The Journal of Biological Chemistry, 2003

Haploinsufficiency of the melanocortin-4 receptor: part of a thrifty genotype?

Cone RD

The Journal of Clinical Investigation, 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."