Varaico: Literature-Extracted Genetic Variants

Gene:ERAP1
Variant:p.I276M
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ERAP1

NM_001040458.3:p.I276M

Associated Papers

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

The association of HLA-DRB1 allele group but not HLA-B or ERAP1-rs7063 gene polymorphisms with atopic dermatitis.

Niepiekło-Miniewska W et al.

Human Immunology, 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 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

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

Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Álvarez-Prado ÁF et al.

Cell Reports. Medicine, 2023

36652909 (PubMed )
Supplement: mmc8.xlsx › BrM167

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

Piekarska K et al.

International Journal of Molecular Sciences, 2022

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

Wang CM et al.

Cells, 2022

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

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

Li C et al.

Bmc Cancer, 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

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

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

Dissecting the Mutational Landscape of Cutaneous Melanoma: An Omic Analysis Based on Patients from Greece.

Kontogianni G et al.

Cancers, 2018

29596374 (PubMed )
Supplement: cancers-10-00096-s001.zip › Table_S1.xlsx › S1

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

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-A04Y-01A.domain

A role for naturally occurring alleles of endoplasmic reticulum aminopeptidases in tumor immunity and cancer pre-disposition.

Stratikos E et al.

Frontiers in Oncology, 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

Reduced activity of the hypertension-associated Lys528Arg mutant of human adipocyte-derived leucine aminopeptidase (A-LAP)/ER-aminopeptidase-1.

Goto Y et al.

Febs Letters, 2006

Identification of 33 polymorphisms in the adipocyte-derived leucine aminopeptidase (ALAP) gene and possible association with hypertension.

Yamamoto N et al.

Human Mutation, 2002

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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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."