Varaico: Literature-Extracted Genetic Variants

Gene:EPAS1
Variant:p.M368I
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EPAS1

NM_001430.5:p.M368I

Associated Papers

Paired comparisons of mutational profiles before and after brachytherapy in asian uveal melanoma patients.

Lee WS et al.

Scientific Reports, 2021

34545149 (PubMed )
Supplement: 41598_2021_98084_MOESM2_ESM.xlsx › Nonsynonymous_SNV_All_YUHS

The Mutational Landscape of Acute Myeloid Leukaemia Predicts Responses and Outcomes in Elderly Patients from the PETHEMA-FLUGAZA Phase 3 Clinical Trial.

Ayala R et al.

Cancers, 2021

34070172 (PubMed )
Supplement: cancers-13-02458-s001.zip › cancers-1203671-supplementary › Table_S8.xlsx › Hoja2

Identification of Novel Mutations and Expressions of EPAS1 in Phaeochromocytomas and Paragangliomas.

Islam F et al.

Genes, 2020

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

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-AO-A0JC-01A.domain

Frequent EPAS1/HIF2α exons 9 and 12 mutations in non-familial pheochromocytoma.

Welander J et al.

Endocrine-related Cancer, 2014

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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."