Varaico: Literature-Extracted Genetic Variants

Gene:ERAP1
Variant:p.R725Q
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ERAP1

NM_001040458.3:p.R725Q

Associated Papers

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

Behçet's Disease: A Comprehensive Review on the Role of HLA-B*51, Antigen Presentation, and Inflammatory Cascade.

Khoshbakht S et al.

International Journal of Molecular Sciences, 2023

Global analysis of suppressor mutations that rescue human genetic defects.

Ünlü B et al.

Genome Medicine, 2023

37821946 (PubMed )
Supplement: 13073_2023_1232_MOESM3_ESM.xlsx › Data

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

Functional ERAP1 Variants Distinctively Associate with Ankylosing Spondylitis Susceptibility under the Influence of HLA-B27 in Taiwanese.

Wang CM et al.

Cells, 2022

The association of Behçet's syndrome with HLA-B51 as understood in 2021.

Takeno M

Current Opinion in Rheumatology, 2022

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

Sui L et al.

Immunobiology, 2021

A First Step for the Molecular Characterization of Neurological Involvement of Behçet Syndrome: an Italian Pivotal Study.

Padula MC et al.

Journal of Molecular Neuroscience : Mn, 2021

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

Nakamura A et al.

Seminars in Immunopathology, 2021

The association of HLA-C and ERAP1 polymorphisms in early and late onset psoriasis and psoriatic arthritis patients of Hungary.

Képíró L et al.

Postepy Dermatologii I Alergologii, 2021

Genetic contribution of endoplasmic reticulum aminopeptidase 1 polymorphisms to liver fibrosis progression in patients with HCV infection.

Vidal-Castiñeira JR et al.

Journal of Molecular Medicine (berlin, Germany), 2020

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

Two-domain aminopeptidase of M1 family: Structural features for substrate binding and gating in absence of C-terminal domain.

Agrawal R et al.

Journal of Structural Biology, 2019

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

Monogenic mimics of Behçet's disease in the young.

Papadopoulou C et al.

Rheumatology (oxford, England), 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

Behçet's disease: An immunogenetic perspective.

Salmaninejad A et al.

Journal of Cellular Physiology, 2019

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

Padula MC et al.

Human Immunology, 2019

Current State of Precision Medicine in Primary Systemic Vasculitides.

Demirkaya E et al.

Frontiers in 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

Immune Regulatory Genes Are Major Genetic Factors to Behcet Disease: Systematic Review.

Deng Y et al.

The Open Rheumatology Journal, 2018

How ERAP1 and ERAP2 Shape the Peptidomes of Disease-Associated MHC-I Proteins.

López de Castro JA

Frontiers in Immunology, 2018

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

Wang X et al.

Molecular Medicine Reports, 2017

The Behçet's disease-associated variant of the aminopeptidase ERAP1 shapes a low-affinity HLA-B*51 peptidome by differential subpeptidome processing.

Guasp P et al.

The Journal of Biological Chemistry, 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

The immunogenetics of Behçet's disease: A comprehensive review.

Takeuchi M et al.

Journal of Autoimmunity, 2015

Brief report: association of CCR1, KLRC4, IL12A-AS1, STAT4, and ERAP1 With Behçet's disease in Iranians.

Sousa I et al.

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

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

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

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
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