Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.R312H
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EGLN1

NM_022051.3:p.R312H

Associated Papers

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

Taber CC et al.

Elife, 2025

41114716 (PubMed )
Supplement: elife-107121-supp1.xlsx › Fig_1

Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis.

Delamare M et al.

Haematologica, 2023

A Case of Microsatellite Instability-High Colon Cancer in a Young Woman With Familial Adenomatous Polyposis.

Blum SM et al.

Journal of the National Comprehensive Cancer Network : Jnccn, 2021

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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."