Varaico: Literature-Extracted Genetic Variants

Gene:ACKR1
Variant:p.G42D
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ACKR1

NM_002036.4:p.G42D

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

Association of the rs2814778 variant in the ACKR1 gene, responsible for the Duffy erythrocyte antigen "null" phenotype, with COVID-19 severity in Southern Brazil.

Góis KS et al.

Einstein (sao Paulo, Brazil), 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

How Duffy blood group (FY) polymorphism and age modulate vivax malaria risk at the community level: a population-based retrospective cohort study in the Amazon.

Prete CA et al.

The Journal of Infectious Diseases, 2025

Array genotyping of transfusion-relevant blood cell antigens in 6946 ancestrally diverse study participants.

Gleadall NS et al.

Blood, 2025

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › iPSC-MCs_tumor_3

Encoding and decoding selectivity and promiscuity in the human chemokine-GPCR interaction network.

Kleist AB et al.

Cell, 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_S7

Duffy Antigen Receptor for Chemokines (DARC) Polymorphisms and Susceptibility to Plasmodium Vivax Malaria in Sudan: a Case - Control Study.

Osman SA et al.

Materia Socio-medica, 2025

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

Long-lasting autoimmune neutropenia and GFI1 variant: A case of familial inheritance.

Cerqueira R et al.

British Journal of Haematology, 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

Genetic associations with ratios between protein levels detect new pQTLs and reveal protein-protein interactions.

Suhre K

Cell Genomics, 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

Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Valentine H et al.

Cancer Research Communications, 2022

36643868 (PubMed )
Supplement: crc-22-0245-s07.xlsx › Variants_All_Exonic.exclude_ncR

High-Resolution Melting Curve Analysis to Predict Extended Blood Group Phenotypes among Thai Donors and Patients.

Nathalang O et al.

Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2022

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

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

Increased frequency of the single nucleotide polymorphism of the DARC/ACKR1 gene associated with ethnic neutropenia in a cohort of European patients with chronic idiopathic neutropenia.

Fragiadaki I et al.

American Journal of Hematology, 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

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

Validated Reference Panel from Renewable Source of Genomic DNA Available for Standardization of Blood Group Genotyping.

Volkova E et al.

The Journal of Molecular Diagnostics : Jmd, 2019

The Duffy antigen receptor for chemokines, ACKR1,- 'Jeanne DARC' of benign neutropenia.

Rappoport N et al.

British Journal of Haematology, 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

Effect of functional genetic variants in chemokine decoy receptors on the recurrence risk of breast cancer.

Li DD et al.

Cancer Medicine, 2018

Susceptibility to Plasmodium vivax malaria associated with DARC (Duffy antigen) polymorphisms is influenced by the time of exposure to malaria.

Kano FS et al.

Scientific Reports, 2018

Impact of genetic polymorphisms determining leukocyte/neutrophil count on chemotherapy toxicity.

Glisovic SJ et al.

The Pharmacogenomics Journal, 2018

Targeted exome sequencing defines novel and rare variants in complex blood group serology cases for a red blood cell reference laboratory setting.

Schoeman EM et al.

Transfusion, 2018

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

Duffy blood group system: New genotyping method and distribution in a Brazilian extra-Amazonian population.

Martins ML et al.

Molecular and Cellular Probes, 2017

Naturally Acquired Binding-Inhibitory Antibodies to Plasmodium vivax Duffy Binding Protein and Clinical Immunity to Malaria in Rural Amazonians.

Nicolete VC et al.

The Journal of Infectious Diseases, 2016

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

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

Boccoz SA et al.

The Journal of Molecular Diagnostics : Jmd, 2016

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

Písačka M et al.

Transfusion, 2015

Duffy blood group genotyping in Thai blood donors.

Nathalang O et al.

Annals of Laboratory Medicine, 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

A New Method for Analyzing the Duffy Blood Group Genotype by TaqMan Minor Groove Binding Probes.

Zhou S et al.

Journal of Clinical Laboratory Analysis, 2015

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