Varaico: Literature-Extracted Genetic Variants

Gene:EGLN1
Variant:p.I269T
Back to variants list

EGLN1

NM_022051.3:p.I269T

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

Coexistence of Multiple Gene Variants in Some Patients with Erythrocytoses.

Benetti A et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2024

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

Delamare M et al.

Haematologica, 2023

Genotype-Phenotype Correlation of Hereditary Erythrocytosis Mutations, a single center experience.

Oliveira JL et al.

American Journal of Hematology, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."