Varaico: Literature-Extracted Genetic Variants

Gene:EPAS1
Variant:p.P531R
Back to variants list

EPAS1

NM_001430.5:p.P531R

Associated Papers

Somatic IDH1 Hotspot Variants in Chinese Patients With Pheochromocytomas and Paragangliomas.

Li M et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

Case Report: A novel EPAS1 mutation in a case of paraganglioma complicated with polycythemia and atrial septal defect.

Yang H et al.

Frontiers in Endocrinology, 2023

Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.

Ma X et al.

Frontiers in Endocrinology, 2022

Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma.

Ben Aim L et al.

Journal of Medical Genetics, 2019

Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.

Richter S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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

Tarade D et al.

Nature Communications, 2018

Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.

Welander J et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

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."