Varaico: Literature-Extracted Genetic Variants

Gene:ACKR1
Variant:p.R89C
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ACKR1

NM_002036.4:p.R89C

Associated Papers

Introduction of an Optimized Protocol for Long-Read Nanopore Sequencing of Blood Group Genes in Immunohematology Case Studies.

Wörner L et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2026

Amplicon-based DNA sequencing to characterize Duffy antigen polymorphisms and analysis of Duffy blood system and glucose-6-phosphate dehydrogenase deficiency in Mauritania.

Fontaine A et al.

Plos Neglected Tropical Diseases, 2025

A reduction in effective population size has not relaxed purifying selection in the human population of Eivissa (Balearic Islands).

Aizpurua-Iraola J et al.

Scientific Reports, 2025

39753655 (PubMed )
Supplement: 41598_2024_84271_MOESM1_ESM.xlsx › STable_9

ACKR1 gene polymorphisms in Bombay blood group (Oh) individuals of Indian origin.

Shaikh R et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2024

Characterization of Blood Group Variants in an Omani Population by Comparison of Whole Genome Sequencing and Serology.

Haffener PE et al.

Biorxiv : the Preprint Server for Biology, 2024

Allelic frequency variation of ACKR1 in three Algerian populations: Zenata, Reguibat, and Oran.

Adda Neggaz L et al.

Transfusion Clinique Et Biologique : Journal De La Societe Francaise De Transfusion Sanguine, 2024

Genetic Characterization of Blood Group Antigens for Polynesian Heritage Norfolk Island Residents.

O'Brien S et al.

Genes, 2023

The highest Duffy (FYX) allele frequency ever reported for Scottish population: A cross-sectional study.

Armstrong-Fisher S et al.

Health Science Reports, 2023

Sensitization of Patient-Derived Colorectal Cancer Organoids to Photon and Proton Radiation by Targeting DNA Damage Response Mechanisms.

Pape K et al.

Cancers, 2022

36291768 (PubMed )
Supplement: cancers-14-04984-s001.zip › Table_S2.xlsx › DD204

Serological and Molecular Study of the Duffy Blood Group among Malarial Endemic Region Residents in Brazil.

Langhi Júnior D et al.

Revista Da Sociedade Brasileira De Medicina Tropical, 2022

Children with Plasmodium vivax infection previously observed in Namibia, were Duffy negative and carried a c.136G > A mutation.

Haiyambo DH et al.

Bmc Infectious Diseases, 2021

An open-source python library for detection of known and novel Kell, Duffy and Kidd variants from exome sequencing.

Montemayor C et al.

Vox Sanguinis, 2021

Diversity of variant alleles encoding Kidd, Duffy, and Kell antigens in individuals with sickle cell disease using whole genome sequencing data from the NHLBI TOPMed Program.

Dinardo CL et al.

Transfusion, 2021

Identification of ACKR1 variants associated with altered Duffy phenotype expression in blood donors from southern Brazil.

Höher G et al.

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

Next-Generation Sequencing Technologies in Blood Group Typing.

Fürst D et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2020

Defining Blood Group Gene Reference Alleles by Long-Read Sequencing: Proof of Concept in the ACKR1 Gene Encoding the Duffy Antigens.

Fichou Y et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2020

Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Xiang J et al.

Scientific Reports, 2020

31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1

Workflow for the Implementation of Precision Genomics in Healthcare.

Mehandziska S et al.

Frontiers in Genetics, 2020

32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Rare_diseases

Blood group typing from whole-genome sequencing data.

Paganini J et al.

Plos One, 2020

Duffy antigen receptor for chemokines gene polymorphisms and malaria in Mangaluru, India.

Gai PP et al.

Malaria Journal, 2019

Frequent expansion of Plasmodium vivax Duffy Binding Protein in Ethiopia and its epidemiological significance.

Lo E et al.

Plos Neglected Tropical Diseases, 2019

31509523 (PubMed )
Supplement: pntd.0007222.s005.xlsx › Asymptomatic

Impact of Duffy polymorphisms on parasite density in Brazilian Amazonian patients infected by Plasmodium vivax.

Abou-Ali RK et al.

Malaria Journal, 2019

Molecular basis of the Duffy blood group system.

Höher G et al.

Blood Transfusion = Trasfusione Del Sangue, 2018

Long-range haplotype analysis of the malaria parasite receptor gene ACKR1 in an East-African population.

Yin Q et al.

Human Genome Variation, 2018

Genetic variants related to disease susceptibility and immunotolerance in the Duffy antigen receptor for chemokines (DARC, Fy) gene in the black lion tamarin (Leontopithecus chrysopygus, primates).

Ansel A et al.

American Journal of Primatology, 2017

[Duffy blood group antigens: structure, serological properties and function].

Łukasik E et al.

Postepy Higieny I Medycyny Doswiadczalnej (online), 2016

Development and Validation of a Fully Automated Platform for Extended Blood Group Genotyping.

Boccoz SA et al.

The Journal of Molecular Diagnostics : Jmd, 2016

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers.

Sidore C et al.

Nature Genetics, 2015

Duffy blood group phenotype-genotype correlations using high-resolution melting analysis PCR and microarray reveal complex cases including a new null FY*A allele: the role for sequencing in genotyping algorithms.

Lopez GH et al.

Vox Sanguinis, 2015

Molecular identification of rare FY*Null and FY*X alleles in Caucasian thalassemic family from Sardinia.

Manfroi S et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2015

The Duffy blood group system in the Tunisian population.

Ouchari M et al.

Transfusion Clinique Et Biologique : Journal De La Societe Francaise De Transfusion Sanguine, 2015

Erythrocyte genotyping for transfusion-dependent patients at the Azienda Universitaria Policlinico of Naples.

Belsito A et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2015

A novel FY*A allele with the 265T and 298A SNPs formerly associated exclusively with the FY*B allele and weak Fy(b) antigen expression: implication for genotyping interpretative algorithms.

Lopez GH et al.

Vox Sanguinis, 2015

Molecular characterization of the Fy(a-b-) phenotype in a Polish family.

Karolak E et al.

Transfusion and Apheresis Science : Official Journal of the World Apheresis Association : Official Journal of the European Society for Haemapheresis, 2013

DARC alleles and Duffy phenotypes in African Americans.

Schmid P et al.

Transfusion, 2012

Analysis for genotyping Duffy blood group in inhabitants of Sudan, the fourth cataract of the Nile.

Kempińska-Podhorodecka A et al.

Malaria Journal, 2012

Vivax malaria in Mauritania includes infection of a Duffy-negative individual.

Wurtz N et al.

Malaria Journal, 2011

Candidate single nucleotide polymorphism markers for arsenic responsiveness of protein targets.

Isokpehi RD et al.

Bioinformatics and Biology Insights, 2010

20981267 (PubMed )
Supplement: BBI-4-supplementary.xls › SNPs3D_-_Substitutions_to_Cys

Duffy antigen receptor for chemokines (Darc) polymorphism regulates circulating concentrations of monocyte chemoattractant protein-1 and other inflammatory mediators.

Schnabel RB et al.

Blood, 2010

Single PCR multiplex SNaPshot reaction for detection of eleven blood group nucleotide polymorphisms: optimization, validation, and one year of routine clinical use.

Di Cristofaro J et al.

The Journal of Molecular Diagnostics : Jmd, 2010

High-throughput red blood cell antigen genotyping using a nanofluidic real-time polymerase chain reaction platform.

Hopp K et al.

Transfusion, 2010

Detection of blood group genes using multiplex SNaPshot method.

Palacajornsuk P et al.

Transfusion, 2009

Genetic polymorphisms in TLR4, CR1 and Duffy genes are not associated with malaria resistance in patients from Baixo Amazonas region, Brazil.

Soares SC et al.

Genetics and Molecular Research : Gmr, 2008

[Molecular background of the ABO blood group system].

Smolarek D et al.

Postepy Higieny I Medycyny Doswiadczalnej (online), 2008

Duffy blood group gene polymorphisms among malaria vivax patients in four areas of the Brazilian Amazon region.

Cavasini CE et al.

Malaria Journal, 2007

Transfusion-induced autoantibodies and differential immunogenicity of blood group antigens: a novel hypothesis.

Zimring JC et al.

Transfusion, 2007

Duffy blood group and malaria.

Langhi DM et al.

Hematology (amsterdam, Netherlands), 2006

Minisequencing-based genotyping of Duffy and ABO blood groups for forensic purposes.

Ferri G et al.

Journal of Forensic Sciences, 2006

The mutation G298A-->Ala100Thr on the coding sequence of the Duffy antigen/chemokine receptor gene in non-caucasian Brazilians.

Estalote AC et al.

Genetics and Molecular Research : Gmr, 2005

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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."