Varaico: Literature-Extracted Genetic Variants

Gene:EPAS1
Variant:p.P531T
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EPAS1

NM_001430.5:p.P531T

Associated Papers

Insights into the genetic landscape of pheochromocytomas and paragangliomas in a Brazilian cohort.

Fagundes GFC et al.

European Journal of Endocrinology, 2025

Functional significance of germline EPAS1 variants.

Dwight T et al.

Endocrine-related Cancer, 2021

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

Tarade D et al.

Nature Communications, 2018

New HIF2α inhibitors: potential implications as therapeutics for advanced pheochromocytomas and paragangliomas.

Toledo RA

Endocrine-related Cancer, 2017

Paragangliomas: update on differential diagnostic considerations, composite tumors, and recent genetic developments.

Papathomas TG et al.

Seminars in Diagnostic Pathology, 2013

In vivo and in vitro oncogenic effects of HIF2A mutations in pheochromocytomas and paragangliomas.

Toledo RA et al.

Endocrine-related Cancer, 2013

HIF2 and endocrine neoplasia: an evolving story.

Maher ER

Endocrine-related Cancer, 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."