Varaico: Literature-Extracted Genetic Variants

Gene:EPAS1
Variant:p.D539Y
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EPAS1

NM_001430.5:p.D539Y

Associated Papers

Expanding the clinical tumor phenotype of the EPAS1-asssociated tumor syndrome.

Cole Y et al.

The Journal of Clinical Endocrinology and Metabolism, 2026

Assessment of HIF2α mutational pathogenicity using microscale thermophoresis.

Ferens FG et al.

Biology Methods & Protocols, 2026

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

Ferens FG et al.

Communications Biology, 2024

The Participation of the Intrinsically Disordered Regions of the bHLH-PAS Transcription Factors in Disease Development.

Kolonko-Adamska M et al.

International Journal of Molecular Sciences, 2021

Exosomal double-stranded DNA as a biomarker for the diagnosis and preoperative assessment of pheochromocytoma and paraganglioma.

Wang L et al.

Molecular Cancer, 2018

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

Tarade D et al.

Nature Communications, 2018

ARHI is a novel epigenetic silenced tumor suppressor in sporadic pheochromocytoma.

Wang D et al.

Oncotarget, 2017

29156798 (PubMed )
Supplement: oncotarget-08-86325-s002.xls › Sheet1

Tumoral EPAS1 (HIF2A) mutations explain sporadic pheochromocytoma and paraganglioma in the absence of erythrocytosis.

Comino-Méndez I et al.

Human Molecular Genetics, 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."