Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.C127S
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EGLN1

NM_022051.3:p.C127S

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

Erythrocytosis-inducing PHD2 mutations implicate biological role for N-terminal prolyl-hydroxylation in HIF1α oxygen-dependent degradation domain.

Taber CC et al.

Elife, 2025

Tibetan PHD2D4E;C127S variant protects from viral diseases in hypoxia, but predispose to infections in normoxia via HIFα:IFN axis.

Ghosh R et al.

Plos Pathogens, 2025

1–50 of 107 papers
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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."