Varaico: Literature-Extracted Genetic Variants

Gene:LHCGR
Variant:p.D578N
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LHCGR

NM_000233.4:p.D578N

Associated Papers

Morphological, immunohistochemical, and genetic analyses of bronchiolar adenoma and its putative variants.

Shao J et al.

The Journal of Pathology. Clinical Research, 2021

Constitutive activation of G protein-coupled receptors and diseases: insights into mechanisms of activation and therapeutics.

Tao YX

Pharmacology & Therapeutics, 2008

The formation of a salt bridge between helices 3 and 6 is responsible for the constitutive activity and lack of hormone responsiveness of the naturally occurring L457R mutation of the human lutropin receptor.

Zhang M et al.

The Journal of Biological Chemistry, 2005

Certain activating mutations within helix 6 of the human luteinizing hormone receptor may be explained by alterations that allow transmembrane regions to activate Gs.

Abell AN et al.

Molecular Endocrinology (baltimore, Md.), 1998

An anionic residue at position 564 is important for maintaining the inactive conformation of the human lutropin/choriogonadotropin receptor.

Kosugi S et al.

Molecular Pharmacology, 1998

The role of Asp578 in maintaining the inactive conformation of the human lutropin/choriogonadotropin receptor.

Kosugi S et al.

The Journal of Biological Chemistry, 1996

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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."