Varaico: Literature-Extracted Genetic Variants

Gene:ACKR1
Variant:p.A100T
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ACKR1

NM_002036.4:p.A100T

Associated Papers

Proof-of-principle: nanopore adaptive sampling enables full blood group genome analysis and resolution of hybrid alleles.

Gueuning M et al.

Blood Advances, 2026

41213005 (PubMed )
Supplement: BLOODA_ADV-2025-017463-mmc2.xlsx › Table11

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

Rapid change in red cell blood group systems after the main Out of Africa of Homo sapiens.

Mazières S et al.

Scientific Reports, 2025

39848961 (PubMed )
Supplement: 41598_2024_83023_MOESM1_ESM.xlsx › Table_S2

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

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

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

Five novel FY null alleles associated with typing discrepancies.

Vege S et al.

Transfusion, 2021

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

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

X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Khan MJ et al.

Scientific Reports, 2018

30389958 (PubMed )
Supplement: 41598_2018_34262_MOESM2_ESM.xlsx › 1._nonsynonymous_variants

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

Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.

Kürschner G et al.

Oncotarget, 2017

29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations

Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

Maguire SL et al.

The Journal of Pathology, 2016

27512948 (PubMed )
Supplement: PATH-240-315-s015.xlsx › Table_S2

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

Łukasik E et al.

Postepy Higieny I Medycyny Doswiadczalnej (online), 2016

FY*A silencing by the GATA-motif variant FY*A(-69C) in a Caucasian family.

Písačka M et al.

Transfusion, 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

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

High-throughput Kell, Kidd, and Duffy matrix-assisted laser desorption/ionization, time-of-flight mass spectrometry-based blood group genotyping of 4000 donors shows close to full concordance with serotyping and detects new alleles.

Meyer S et al.

Transfusion, 2014

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

The global distribution of the Duffy blood group.

Howes RE et al.

Nature Communications, 2011

21468018 (PubMed )
Supplement: ncomms1265-s1.pdf

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

FY polymorphisms and vivax malaria in inhabitants of Amazonas State, Brazil.

Albuquerque SR et al.

Parasitology Research, 2010

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_

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

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

A novel FY allele in Brazilians.

Castilho L et al.

Vox Sanguinis, 2004

Duffy antigen/receptor for chemokines (DARC): genotypes in Ashkenazi and non-Ashkenazi Jews in Israel.

Parasol N et al.

Human Biology, 2001

Molecular mechanisms that lead to reduced expression of duffy antigens.

Yazdanbakhsh K et al.

Transfusion, 2000

New genotypes in Fy(a-b-) individuals: nonsense mutations (Trp to stop) in the coding sequence of either FY A or FY B.

Rios M et al.

British Journal of Haematology, 2000

Fyx is associated with two missense point mutations in its gene and can be detected by PCR-SSP.

Gassner C et al.

Immunohematology, 2000

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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."