Varaico: Literature-Extracted Genetic Variants

Gene:EPAS1
Variant:p.T519M
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EPAS1

NM_001430.5:p.T519M

Associated Papers

Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.

Wang J et al.

Frontiers in Oncology, 2024

38817903 (PubMed )
Supplement: Table_3.xlsx › Sheet1

Hypoxia-inducible factor underlies von Hippel-Lindau disease stigmata.

Ohh M et al.

Elife, 2022

A Transgenic Mouse Model of Pacak⁻Zhuang Syndrome with An Epas1 Gain-of-Function Mutation.

Wang H et al.

Cancers, 2019

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_MOESM1_ESM.pdf

HIF2A gain-of-function mutations detected in duodenal gangliocytic paraganglioma.

Zhuang Z et al.

Endocrine-related Cancer, 2016

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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."