Varaico: Literature-Extracted Genetic Variants

Gene:PTH1R
Variant:p.T178A
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PTH1R

NM_000316.3:p.T178A

Associated Papers

Molecular insights into the distinct signaling duration for the peptide-induced PTH1R activation.

Zhai X et al.

Nature Communications, 2022

36271004 (PubMed )
Supplement: 41467_2022_34009_MOESM1_ESM.pdf

A Heterozygous Splice-Site Mutation in PTHLH Causes Autosomal Dominant Shortening of Metacarpals and Metatarsals.

Reyes M et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2019

Arginine 186 in the extracellular N-terminal region of the human parathyroid hormone 1 receptor is essential for contact with position 13 of the hormone.

Adams AE et al.

Molecular Endocrinology (baltimore, Md.), 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."