Varaico: Literature-Extracted Genetic Variants

Gene:GNRHR
Variant:p.F272L
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GNRHR

NM_000406.3:p.F272L

Associated Papers

Mutations remote from the human gonadotropin-releasing hormone (GnRH) receptor-binding sites specifically increase binding affinity for GnRH II but not GnRH I: evidence for ligand-selective, receptor-active conformations.

Lu ZL et al.

The Journal of Biological Chemistry, 2005

A single amino acid substitution in transmembrane helix VI results in overexpression of the human GnRH receptor.

Myburgh DB et al.

European Journal of Endocrinology, 1998

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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."