Varaico: Literature-Extracted Genetic Variants

Gene:MC2R
Variant:p.L55H
Back to variants list

MC2R

NM_000529.2:p.L55H

Associated Papers

Human Melanocortin-2 Receptor: Identifying a Role for Residues in the TM4, EC2, and TM5 Domains in Activation and Trafficking as a Result of Co-Expression with the Accessory Protein, Mrap1 in Chinese Hamster Ovary Cells.

Davis PV et al.

Biomolecules, 2022

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

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

Chen M et al.

Biochemistry, 2007

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."