Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.C42S
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EGLN1

NM_022051.3:p.C42S

Associated Papers

<p>Prolyl hydroxylase domain proteins: Localization, regulation, function and their role in erythropoiesis (Review)</p>.

Hou Y et al.

Molecular Medicine Reports, 2026

Update on mutations in the HIF: EPO pathway and their role in erythrocytosis.

Lappin TR et al.

Blood Reviews, 2019

Loss-of-function zinc finger mutation in the EGLN1 gene associated with erythrocytosis.

Sinnema M et al.

Blood, 2018

The Zinc Finger of Prolyl Hydroxylase Domain Protein 2 Is Essential for Efficient Hydroxylation of Hypoxia-Inducible Factor α.

Arsenault PR et al.

Molecular and Cellular Biology, 2016

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."