Varaico: Literature-Extracted Genetic Variants

Gene:ERAP1
Variant:p.G346D
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ERAP1

NM_001040458.3:p.G346D

Associated Papers

The Impact of ERAP1 and ERAP2 Haplotype Combinations on Susceptibility and Severity of Birdshot Chorioretinitis.

Loeliger J et al.

Investigative Ophthalmology & Visual Science, 2026

ERAP1 Gene Variants and Haplotypes Associated With Psoriasis Vulgaris of Han Chinese in Inner Mongolia.

Li X et al.

Molecular Genetics & Genomic Medicine, 2024

Hunting for the elusive target antigen in gestational alloimmune liver disease (GALD).

Rieneck K et al.

Plos One, 2023

37862305 (PubMed )
Supplement: pone.0286432.s010.xlsx › Ark1

Single-cell genome-wide association reveals that a nonsynonymous variant in ERAP1 confers increased susceptibility to influenza virus.

Schott BH et al.

Cell Genomics, 2022

H3.3K27M mutation is not a suitable target for immunotherapy in HLA-A2+ patients with diffuse midline glioma.

Immisch L et al.

Journal for Immunotherapy of Cancer, 2022

36302563 (PubMed )
Supplement: jitc-2022-005535supp001.pdf

Interaction between ERAP Alleles and HLA Class I Types Support a Role of Antigen Presentation in Hodgkin Lymphoma Development.

Jiang P et al.

Cancers, 2021

33499248 (PubMed )
Supplement: cancers-13-00414-s001.pdf

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s007.xlsx › Sheet1

ERAP1 polymorphisms interactions and their association with Behçet's disease susceptibly: Application of Model-Based Multifactor Dimension Reduction Algorithm (MB-MDR).

Riahi P et al.

Plos One, 2020

Epistatic Interaction of ERAP1 and HLA-B*51 in Iranian Patients with Behçet's Disease.

Mahmoudi M et al.

Scientific Reports, 2018

Bioinformatics analysis of genetic variants of endoplasmic reticulum aminopeptidase 1 in ankylosing spondylitis.

Wang X et al.

Molecular Medicine Reports, 2017

Molecular and pathogenic effects of endoplasmic reticulum aminopeptidases ERAP1 and ERAP2 in MHC-I-associated inflammatory disorders: Towards a unifying view.

López de Castro JA et al.

Molecular Immunology, 2016

Endoplasmic Reticulum Aminopeptidase 1 (ERAP1) Polymorphism Relevant to Inflammatory Disease Shapes the Peptidome of the Birdshot Chorioretinopathy-Associated HLA-A*29:02 Antigen.

Alvarez-Navarro C et al.

Molecular & Cellular Proteomics : Mcp, 2015

Endoplasmic reticulum-associated amino-peptidase 1 and rheumatic disease: genetics.

Ombrello MJ et al.

Current Opinion in Rheumatology, 2015

Endoplasmic reticulum aminopeptidase 1 and rheumatic disease: functional variation.

Tran TM et al.

Current Opinion in Rheumatology, 2015

Identification of HPV integration and gene mutation in HeLa cell line by integrated analysis of RNA-Seq and MS/MS data.

Sun H et al.

Journal of Proteome Research, 2015

25698088 (PubMed )
Supplement: pr500944c_si_009.xlsx › SNV

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-A8-A06O-01A.domain

Combined effects of ankylosing spondylitis-associated ERAP1 polymorphisms outside the catalytic and peptide-binding sites on the processing of natural HLA-B27 ligands.

Martín-Esteban A et al.

The Journal of Biological Chemistry, 2014

Functional interaction of the ankylosing spondylitis-associated endoplasmic reticulum aminopeptidase 1 polymorphism and HLA-B27 in vivo.

García-Medel N et al.

Molecular & Cellular Proteomics : Mcp, 2012

Investigating the genetic association between ERAP1 and ankylosing spondylitis.

Harvey D et al.

Human Molecular Genetics, 2009

Common allotypes of ER aminopeptidase 1 have substrate-dependent and highly variable enzymatic properties.

Hutchinson JP et al.

The Journal of Biological Chemistry, 0

33617882 (PubMed )
Supplement: mmc1.pdf
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