Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.E80A
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MC2R

NM_000529.2:p.E80A

Associated Papers

Novel Melanocortin 2 Receptor Variant in a Chinese Infant With Familial Glucocorticoid Deficiency Type 1, Case Report and Review of Literature.

Abuduxikuer K et al.

Frontiers in Endocrinology, 2019

The E92K melanocortin 1 receptor mutant induces cAMP production and arrestin recruitment but not ERK activity indicating biased constitutive signaling.

Benned-Jensen T et al.

Plos One, 2011

Molecular identification of the human melanocortin-2 receptor responsible for ligand binding and signaling.

Chen M et al.

Biochemistry, 2007

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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."