Varaico: Literature-Extracted Genetic Variants

Gene:ERAP1
Variant:p.Q730E
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ERAP1

NM_001040458.3:p.Q730E

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

Defining a genetic background for bamboo spine and axial spondyloarthritis.

Özkaya ŞÇ et al.

Joint Bone Spine, 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

GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets.

Dand N et al.

Nature Communications, 2025

40021644 (PubMed )
Supplement: 41467_2025_56719_MOESM3_ESM.xlsx › Supplementary_Data_20

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

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

Association of ERAP1 and ERAP2 gene polymorphisms and ERAP2 protein with the susceptibility and severity of rheumatoid arthritis in the Ukrainian population.

Kril I et al.

Frontiers in Immunology, 2024

Shedding Light on the Role of ERAP1 in Axial Spondyloarthritis.

Saad MA et al.

Cureus, 2023

GWAS meta-analysis of psoriasis identifies new susceptibility alleles impacting disease mechanisms and therapeutic targets.

Dand N et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37873414 (PubMed )
Supplement: media-2.xlsx › Supplementary_Table_16

Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.

Huang YC et al.

Journal of Personalized Medicine, 2023

37763159 (PubMed )
Supplement: jpm-13-01392-s001.zip › Supplementary_Table_S3.xlsx › Variants

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

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

Piekarska K et al.

International Journal of Molecular Sciences, 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

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

Wang CM et al.

Cells, 2022

HLA-B27 may modulate the interaction between ERAP1 polymorphisms and smoking in ankylosing spondylitis patients.

Fernández-Torres J et al.

Molecular Biology Reports, 2022

The emerging multifunctional roles of ERAP1, ERAP2 and IRAP between antigen processing and renin-angiotensin system modulation.

Mattorre B et al.

Frontiers in Immunology, 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

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

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

Polymorphisms in endoplasmic reticulum aminopeptidase genes are associated with cervical cancer risk in a Chinese Han population.

Li C et al.

Bmc Cancer, 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

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

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

Padula MC 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

Evaluation of ERAP1 Gene Single Nucleotide Polymorphism in Impressing the Inflammatory Cytokine Profile of Ankylosing Spondylitis Patients.

Mohammadi H et al.

Iranian Journal of Allergy, Asthma, and Immunology, 2018

Association of ERAP1 gene polymorphisms with the susceptibility to psoriasis vulgaris: A case-control study.

Fu Y et al.

Medicine, 2018

The role of polymorphic ERAP1 in autoinflammatory disease.

Reeves E et al.

Bioscience Reports, 2018

Allele-specific Alterations in the Peptidome Underlie the Joint Association of HLA-A*29:02 and Endoplasmic Reticulum Aminopeptidase 2 (ERAP2) with Birdshot Chorioretinopathy.

Sanz-Bravo A et al.

Molecular & Cellular Proteomics : Mcp, 2018

An allelic variant in the intergenic region between ERAP1 and ERAP2 correlates with an inverse expression of the two genes.

Paladini F et al.

Scientific 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

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

López de Castro JA

Frontiers in Immunology, 2018

Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling.

Dand N et al.

Human Molecular Genetics, 2017

Associations of ERAP1 coding variants and domain specific interaction with HLA-C∗06 in the early onset psoriasis patients of India.

Das A et al.

Human Immunology, 2017

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

Wang X et al.

Molecular Medicine Reports, 2017

The ERAP gene is associated with HCV chronic infection in a Chinese Han population.

Liu S et al.

Human Immunology, 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

Separate effects of the ankylosing spondylitis associated ERAP1 and ERAP2 aminopeptidases determine the influence of their combined phenotype on the HLA-B*27 peptidome.

Martín-Esteban A et al.

Journal of Autoimmunity, 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

Cervical Carcinogenesis and Immune Response Gene Polymorphisms: A Review.

Mehta AM et al.

Journal of Immunology Research, 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

Single Nucleotide Polymorphisms of the ERAP1 Gene and Risk of NSCLC: A Comparison of Genetically Distant Populations, Chinese and Caucasian.

Yao Y et al.

Archivum Immunologiae Et Therapiae Experimentalis, 2016

ERAP1 and ERAP2 Gene Variations Influence the Risk of Psoriatic Arthritis in Romanian Population.

Popa OM et al.

Archivum Immunologiae Et Therapiae Experimentalis, 2016

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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."