Varaico: Literature-Extracted Genetic Variants

Gene:FKBP8
Variant:p.E56A
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FKBP8

NM_012181.5:p.E56A

Associated Papers

Tibetan PHD2, an allele with loss-of-function properties.

Song D et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

Prolyl hydroxylase domain protein 2 (PHD2) binds a Pro-Xaa-Leu-Glu motif, linking it to the heat shock protein 90 pathway.

Song D et al.

The Journal of Biological Chemistry, 2013

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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."