Varaico: Literature-Extracted Genetic Variants

Gene:EPX
Variant:p.R286H
Back to variants list

EPX

NM_000502.6:p.R286H

Associated Papers

Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.

Yin X et al.

Nature Communications, 2025

40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM8_ESM.xlsx › Supplementary_Data_4_pathogenic

Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Álvarez-Prado ÁF et al.

Cell Reports. Medicine, 2023

36652909 (PubMed )
Supplement: mmc3.xlsx › BrM61

Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis.

Hoefflin R et al.

Cancers, 2021

33800365 (PubMed )
Supplement: cancers-13-01151-s001.zip › Supplementary_Data_2.xlsx › Cosmic_Annotated_Mutations

Eosinophilic peroxidase deficiency: Identification of a point mutation (D648N) and prediction of structural changes.

Nakagawa T et al.

Human Mutation, 2001

Expression and characterization of recombinant human eosinophil peroxidase. Impact of the R286H substitution on the biosynthesis and activity of the enzyme.

Romano M et al.

European Journal of Biochemistry, 2000

Hereditary eosinophil peroxidase deficiency: immunochemical and spectroscopic studies and evidence for a compound heterozygosity of the defect.

Romano M et al.

Proceedings of the National Academy of Sciences of the United States of America, 1994

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."