Varaico: Literature-Extracted Genetic Variants

Gene:PTH2R
Variant:p.H180R
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PTH2R

NM_005048.4:p.H180R

Associated Papers

Transmembrane residues together with the amino terminus limit the response of the parathyroid hormone (PTH) 2 receptor to PTH-related peptide.

Turner PR et al.

The Journal of Biological Chemistry, 1998

Constitutive activation of the cyclic adenosine 3',5'-monophosphate signaling pathway by parathyroid hormone (PTH)/PTH-related peptide receptors mutated at the two loci for Jansen's metaphyseal chondrodysplasia.

Schipani E et al.

Molecular Endocrinology (baltimore, Md.), 1997

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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."