Varaico: Literature-Extracted Genetic Variants

Gene:EPAS1
Variant:p.P405A
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EPAS1

NM_001430.5:p.P405A

Associated Papers

Nuclear speckles regulate functional programs in cancer.

Alexander KA et al.

Nature Cell Biology, 2025

Deficiency in PHD2-mediated hydroxylation of HIF2α underlies Pacak-Zhuang syndrome.

Ferens FG et al.

Communications Biology, 2024

The BMAL1/HIF2A heterodimer modulates circadian variations of myocardial injury.

Ruan W et al.

Research Square, 2024

Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.

Karaghiannis V et al.

Haematologica, 2023

HIF-2α-pVHL complex reveals broad genotype-phenotype correlations in HIF-2α-driven disease.

Tarade D et al.

Nature Communications, 2018

30135421 (PubMed )
Supplement: 41467_2018_5554_MOESM2_ESM.pdf

The HIF and other quandaries in VHL disease.

Tarade D et al.

Oncogene, 2018

Hif-2α promotes degradation of mammalian peroxisomes by selective autophagy.

Walter KM et al.

Cell Metabolism, 2014

Erythrocytosis and pulmonary hypertension in a mouse model of human HIF2A gain of function mutation.

Tan Q et al.

The Journal of Biological Chemistry, 2013

Identification of membrane type-1 matrix metalloproteinase as a target of hypoxia-inducible factor-2 alpha in von Hippel-Lindau renal cell carcinoma.

Petrella BL et al.

Oncogene, 2005

Differentiating the functional role of hypoxia-inducible factor (HIF)-1alpha and HIF-2alpha (EPAS-1) by the use of RNA interference: erythropoietin is a HIF-2alpha target gene in Hep3B and Kelly cells.

Warnecke C et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2004

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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."