Varaico: Literature-Extracted Genetic Variants

Gene:ERAP1
Variant:p.E56K
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ERAP1

NM_001040458.3:p.E56K

Associated Papers

Exome Sequencing to Identify Novel Susceptibility Genes for Nonsyndromic Split-Hand/Ft Malformation: A Report From the National Birth Defects Prevention Study.

Carter TC et al.

Birth Defects Research, 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

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

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

35687490 (PubMed )
Supplement: advancesADV2021006654-suppl4.xlsx › PL23

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

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

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

Mahmoudi M et al.

Scientific Reports, 2018

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

Wang X et al.

Molecular Medicine Reports, 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

The association of endoplasmic reticulum aminopeptidase-1 (ERAP-1) with Familial Mediterranean Fever (FMF).

Sezgin G et al.

United European Gastroenterology Journal, 2016

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

Differences in genetic variation in antigen-processing machinery components and association with cervical carcinoma risk in two Indonesian populations.

Mehta AM et al.

Immunogenetics, 2015

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

Single nucleotide polymorphisms in antigen processing machinery component ERAP1 significantly associate with clinical outcome in cervical carcinoma.

Mehta AM et al.

Genes, Chromosomes & Cancer, 2009

Genetic variation of antigen processing machinery components and association with cervical carcinoma.

Mehta AM et al.

Genes, Chromosomes & Cancer, 2007

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

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."