Varaico: Literature-Extracted Genetic Variants

Gene:MRAP
Variant:p.Y59D
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MRAP

NM_001379228.1:p.Y59D

Associated Papers

Emerging roles of melanocortin receptor accessory proteins (MRAP and MRAP2) in physiology and pathophysiology.

Berruien NNA et al.

Gene, 2020

ACTH resistance: genes and mechanisms.

Meimaridou E et al.

Endocrine Development, 2013

Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein.

Jain V et al.

European Journal of Endocrinology, 2011

Effects of melanocortins on adrenal gland physiology.

Chan LF et al.

European Journal of Pharmacology, 2011

Missense mutations in the melanocortin 2 receptor accessory protein that lead to late onset familial glucocorticoid deficiency type 2.

Hughes CR et al.

The Journal of Clinical Endocrinology and Metabolism, 2010

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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."