Varaico: Literature-Extracted Genetic Variants

Gene:ERAP1
Variant:p.K528R
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ERAP1

NM_001040458.3:p.K528R

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

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

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

A novel allosteric driver mutation of β-glucuronidase promotes head and neck squamous cell carcinoma progression through STT3B-mediated PD-L1 N-glycosylation.

Liu Z et al.

Medcomm, 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

Association of a single nucleotide polymorphism (rs27434) in the ERAP1 gene with plural tissue weight.

Sasaki T et al.

Legal Medicine (tokyo, Japan), 2024

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

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

Țiburcă L et al.

Current Issues in Molecular Biology, 2024

Polymorphic positions 349 and 725 of the autoimmunity-protective allotype 10 of ER aminopeptidase 1 are key in determining its unique enzymatic properties.

Georgaki G et al.

Frontiers in Immunology, 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

A large meta-analysis identifies genes associated with anterior uveitis.

Gelfman S et al.

Nature Communications, 2023

Shedding Light on the Role of ERAP1 in Axial Spondyloarthritis.

Saad MA et al.

Cureus, 2023

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

The relationship between vitamin D receptor gene polymorphisms and ankylosing spondylitis: a systematic review, meta-analysis and trial sequential analysis.

Zhou H et al.

Rheumatology International, 2023

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

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

Allele frequency spectrum of known ankylosing spondylitis associated variants in a Swedish population.

Mathioudaki A et al.

Scandinavian Journal of Rheumatology, 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

Absence of ERAP1 in B Cells Increases Susceptibility to Central Nervous System Autoimmunity, Alters B Cell Biology, and Mechanistically Explains Genetic Associations between ERAP1 and Multiple Sclerosis.

O'Connell P et al.

Journal of Immunology (baltimore, Md. : 1950), 2021

Conformational dynamics linked to domain closure and substrate binding explain the ERAP1 allosteric regulation mechanism.

Maben Z et al.

Nature Communications, 2021

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

Genetic association of ERAP1 and ERAP2 with eclampsia and preeclampsia in northeastern Brazilian women.

Ferreira LC et al.

Scientific Reports, 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

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

Genetics and the axial spondyloarthritis spectrum.

Brown MA et al.

Rheumatology (oxford, England), 2020

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

A genetic polymorphism of IL17F rs763780 associated with anti-E production in the Han Chinese population.

Chen S et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2020

Genomewide Association Study of Acute Anterior Uveitis Identifies New Susceptibility Loci.

Huang XF et al.

Investigative Ophthalmology & Visual Science, 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

MHC associations of ankylosing spondylitis in East Asians are complex and involve non-HLA-B27 HLA contributions.

Wang G et al.

Arthritis Research & Therapy, 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

The Role of Insulin Regulated Aminopeptidase in Endocytic Trafficking and Receptor Signaling in Immune Cells.

Descamps D et al.

Frontiers in Molecular Biosciences, 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

The genetics, structure and function of the M1 aminopeptidase oxytocinase subfamily and their therapeutic potential in immune-mediated disease.

Hanson AL et al.

Human Immunology, 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

Association Study of Single Nucleotide Polymorphisms of Endoplasmic Reticulum Aminopeptidase 1 and 2 Genes in Iranian Women with Preeclampsia.

Dargahi H et al.

Iranian Journal of Public Health, 2019

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

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

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › T2
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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."