Varaico: Literature-Extracted Genetic Variants

Gene:ERAP1
Variant:p.M349V
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ERAP1

NM_001040458.3:p.M349V

Associated Papers

Corilagin regulates antigen processing and presentation by directly binding to inhibit ERAP1.

Sun X et al.

International Immunopharmacology, 2025

The Genetic Background of Ankylosing Spondylitis Reveals a Distinct Overlap with Autoimmune Diseases: A Systematic Review.

Zormpa T et al.

Journal of Clinical Medicine, 2025

Endogamy and high prevalence of deleterious mutations in India: evidence from strong founder events.

Machha P et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

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

Li X et al.

Molecular Genetics & Genomic Medicine, 2024

The Role of Aminopeptidase ERAP1 in Human Pathology-A Review.

Țiburcă L et al.

Current Issues in Molecular Biology, 2024

Shedding Light on the Role of ERAP1 in Axial Spondyloarthritis.

Saad MA et al.

Cureus, 2023

ERAP/HLA-C and KIR Genetic Profile in Couples with Recurrent Implantation Failure.

Piekarska K et al.

International Journal of Molecular Sciences, 2022

Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.

Denisova E et al.

Cancer Gene Therapy, 2022

34045664 (PubMed )
Supplement: 41417_2021_347_MOESM4_ESM.xls › C000-ZZP8UU

Searching for New Genetic Biomarkers of Axial Spondyloarthritis.

Bugaj B et al.

Journal of Clinical Medicine, 2022

ERAP1 binds peptide C-termini of different sequences and/or lengths by a common recognition mechanism.

Sui L et al.

Immunobiology, 2021

Aberrant antigen processing and presentation: Key pathogenic factors leading to immune activation in Ankylosing spondylitis.

Nakamura A et al.

Seminars in Immunopathology, 2021

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

Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Pongor LS et al.

Scientific Reports, 2020

32873813 (PubMed )
Supplement: 41598_2020_71382_MOESM6_ESM.xlsx › Hypermutating

Analysis of 47 Non-MHC Ankylosing Spondylitis Susceptibility Loci Regarding Associated Variants across Whites and Han Chinese.

Zheng X et al.

The Journal of Rheumatology, 2020

From structure to function for the characterization of ERAP1 active site in Behçet syndrome. A novel polymorphism associated with known gene variations.

Padula MC et al.

Molecular Immunology, 2020

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

Distribution of rs17482078 and rs27044 ERAP1 polymorphisms in a group of Italian Behçet's syndrome patients: a preliminary case-control study.

Padula MC et al.

Internal and Emergency Medicine, 2019

HPV Epitope Processing Differences Correlate with ERAP1 Allotype and Extent of CD8+ T-cell Tumor Infiltration in OPSCC.

Reeves E et al.

Cancer Immunology Research, 2019

Endoplasmic reticulum aminopeptidase 1 polymorphism Ile276Met is associated with atopic dermatitis and affects the generation of an HLA-C associated antigenic epitope in vitro.

Niepiekło-Miniewska W et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2019

Genotyping of Italian patients with Behçet syndrome identified two novel ERAP1 polymorphisms using sequencing-based approach.

Padula MC et al.

Human Immunology, 2019

ERAP1-ERAP2 haplotypes are associated with ankylosing spondylitis in Polish patients.

Wiśniewski A et al.

Human Immunology, 2019

ERAP, KIR and HLA-C gene interaction in susceptibility to recurrent spontaneous abortion in the Polish population.

Wilczyńska K et al.

Human Immunology, 2019

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

Mahmoudi M et al.

Scientific Reports, 2018

The role of polymorphic ERAP1 in autoinflammatory disease.

Reeves E et al.

Bioscience Reports, 2018

Ranking the Contribution of Ankylosing Spondylitis-associated Endoplasmic Reticulum Aminopeptidase 1 (ERAP1) Polymorphisms to Shaping the HLA-B*27 Peptidome.

Sanz-Bravo A et al.

Molecular & Cellular Proteomics : Mcp, 2018

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

Wang X et al.

Molecular Medicine Reports, 2017

ERAP1 association with ankylosing spondylitis is attributable to common genotypes rather than rare haplotype combinations.

Roberts AR et al.

Proceedings of the National Academy of Sciences of the United States of America, 2017

A single endoplasmic reticulum aminopeptidase-1 protein allotype is a strong risk factor for Behçet's disease in HLA-B*51 carriers.

Takeuchi M et al.

Annals of the Rheumatic Diseases, 2016

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

ERAP1 reduces accumulation of aberrant and disulfide-linked forms of HLA-B27 on the cell surface.

Tran TM 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

ERAP1 variants are associated with ankylosing spondylitis in East Asian population: a new Chinese case-control study and meta-analysis of published series.

Chen C et al.

International Journal of Immunogenetics, 2015

Dominant role of the ERAP1 polymorphism R528K in shaping the HLA-B27 Peptidome through differential processing determined by multiple peptide residues.

Sanz-Bravo A et al.

Arthritis & Rheumatology (hoboken, N.j.), 2015

Molecular backgrounds of ERAP1 downregulation in cervical carcinoma.

Mehta AM et al.

Analytical Cellular Pathology (amsterdam), 2015

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-A2-A0EM-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

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