Varaico: Literature-Extracted Genetic Variants

Gene:GHR
Variant:p.Y487F
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GHR

NM_000163.5:p.Y487F

Associated Papers

A novel Y332C missense mutation in the intracellular domain of the human growth hormone receptor does not alter STAT5b signaling: redundancy of GHR intracellular tyrosines involved in STAT5b signaling.

Derr MA et al.

Hormone Research in Paediatrics, 2011

The SOCS2 ubiquitin ligase complex regulates growth hormone receptor levels.

Vesterlund M et al.

Plos One, 2011

Mutation of the SHP-2 binding site in growth hormone (GH) receptor prolongs GH-promoted tyrosyl phosphorylation of GH receptor, JAK2, and STAT5B.

Stofega MR et al.

Molecular Endocrinology (baltimore, Md.), 2000

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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."