Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.R227L
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G6PD

NM_001360016.2:p.R227L

Associated Papers

High prevalence of G6PD mutations in blood donors from the Brazilian Amazon region.

Silva JNV et al.

Blood Transfusion = Trasfusione Del Sangue, 2025

Molecular Characterization of Erythrocyte Glucose-6-Phosphate Dehydrogenase Deficiency in Different Ethnic Groups of Blood Donors in Mauritania.

Taleb M et al.

Frontiers in Bioscience (scholar Edition), 2023

Ancestry, diversity, and genetics of health-related traits in African-derived communities (quilombos) from Brazil.

Joerin-Luque IA et al.

Functional & Integrative Genomics, 2023

Functional interpretation, cataloging, and analysis of 1,341 glucose-6-phosphate dehydrogenase variants.

Geck RC et al.

American Journal of Human Genetics, 2023

36681081 (PubMed )
Supplement: mmc1.xlsx › Table_S1_variants

Performance of a Commercial Multiplex Allele-Specific Polymerase Chain Reaction Kit to Genotype African-Type Glucose-6-Phosphate Dehydrogenase Deficiency.

Djigo OKM et al.

The American Journal of Tropical Medicine and Hygiene, 2023

Glucose-6-phosphate Dehydrogenase (G6PD) A-Variant Frequency and Novel Polymorphism in Haiti.

Vincent JP et al.

The American Journal of Tropical Medicine and Hygiene, 2022

Duffy blood system and G6PD genetic variants in vivax malaria patients from Manaus, Amazonas, Brazil.

Ferreira NS et al.

Malaria Journal, 2022

Assessment of CareStart G6PD rapid diagnostic test and CareStart G6PD biosensor in Mauritania.

Djigo OKM et al.

Infectious Diseases of Poverty, 2021

Molecular Epidemiology of G6PD Genotypes in Different Ethnic Groups Residing in Saharan and Sahelian Zones of Mauritania.

Djigo OKM et al.

Pathogens (basel, Switzerland), 2021

Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi-Ethnic Allele and Copy Number Variant Detection.

Scott SA et al.

Clinical and Translational Science, 2021

32931151 (PubMed )
Supplement: CTS-14-204-s001.xlsx › Table_S1

G6PD Variants and Haemolytic Sensitivity to Primaquine and Other Drugs.

Bancone G et al.

Frontiers in Pharmacology, 2021

Genotypic glucose-6-phosphate dehydrogenase (G6PD) deficiency protects against Plasmodium falciparum infection in individuals living in Ghana.

Amoah LE et al.

Plos One, 2021

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar

G6PD A- is the major cause of G6PD deficiency among the Siddis of Karnataka, India.

Devendra R et al.

Annals of Human Biology, 2020

Molecular Characterization of Glucose-6-Phosphate Dehydrogenase: Do Single Nucleotide Polymorphisms Affect Hematological Parameters in HIV-Positive Patients?

Danquah KO et al.

Journal of Tropical Medicine, 2020

Assessment of glucose-6-phosphate dehydrogenase activity using CareStart G6PD rapid diagnostic test and associated genetic variants in Plasmodium vivax malaria endemic setting in Mauritania.

Djigo OKM et al.

Plos One, 2019

G6PD deficiency, primaquine treatment, and risk of haemolysis in malaria-infected patients.

Avalos S et al.

Malaria Journal, 2018

Low and heterogeneous prevalence of glucose-6-phosphate dehydrogenase deficiency in different settings in Ethiopia using phenotyping and genotyping approaches.

Shitaye G et al.

Malaria Journal, 2018

Understanding human genetic factors influencing primaquine safety and efficacy to guide primaquine roll-out in a pre-elimination setting in southern Africa.

Awandu SS et al.

Malaria Journal, 2018

Females of HbAS genotype have reduced concentration of the malaria protective deoxyhemoglobin S than males.

Waitumbi JN et al.

Plos One, 2018

Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening.

Ng D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27537706 (PubMed )
Supplement: NIHMS802548-supplement-Table_S4.pdf

Genetic Background of the Sickle Cell Disease Pediatric Population of Dakar, Senegal, and Characterization of a Novel Frameshift β-Thalassemia Mutation [HBB: c.265_266del; p.Leu89Glufs*2].

Gueye Tall F et al.

Hemoglobin, 2017

Characterisation of the opposing effects of G6PD deficiency on cerebral malaria and severe malarial anaemia.

Clarke GM et al.

Elife, 2017

Genetic Epidemiology of Glucose-6-Phosphate Dehydrogenase Deficiency in the Arab World.

Doss CG et al.

Scientific Reports, 2016

Prevalence of G6PD deficiency and Plasmodium falciparum parasites in asymptomatic school children living in southern Ghana.

Amoah LE et al.

Malaria Journal, 2016

Glucose-6-phosphate dehydrogenase deficiency and reduced haemoglobin levels in African children with severe malaria.

Nguetse CN et al.

Malaria Journal, 2016

Heterogeneous alleles comprising G6PD deficiency trait in West Africa exert contrasting effects on two major clinical presentations of severe malaria.

Shah SS et al.

Malaria Journal, 2016

Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase Deficiency in Burkina Faso: G-6-PD Betica Selma and Santamaria in People with Symptomatic Malaria in Ouagadougou.

Ouattara AK et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2016

Glucose-6-phosphate dehydrogenase deficiency among malaria patients of Honduras: a descriptive study of archival blood samples.

Zúñiga MÁ et al.

Malaria Journal, 2015

Evaluation of the diagnostic accuracy of CareStart G6PD deficiency Rapid Diagnostic Test (RDT) in a malaria endemic area in Ghana, Africa.

Adu-Gyasi D et al.

Plos One, 2015

Genetic determinants of glucose-6-phosphate dehydrogenase activity in Kenya.

Shah SS et al.

Bmc Medical Genetics, 2014

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is associated with asymptomatic malaria in a rural community in Burkina Faso.

Ouattara AK et al.

Asian Pacific Journal of Tropical Biomedicine, 2014

Impact of glucose-6-phosphate dehydrogenase deficiency on sickle cell anaemia expression in infancy and early childhood: a prospective study.

Benkerrou M et al.

British Journal of Haematology, 2013

Spatial distribution of G6PD deficiency variants across malaria-endemic regions.

Howes RE et al.

Malaria Journal, 2013

24228846 (PubMed )
Supplement: 1475-2875-12-418-S1.docx

Two new class III G6PD variants [G6PD Tunis (c.920A>C: p.307Gln>Pro) and G6PD Nefza (c.968T>C: p.323 Leu>Pro)] and overview of the spectrum of mutations in Tunisia.

Benmansour I et al.

Blood Cells, Molecules & Diseases, 2013

Analysis of the genetic variants of glucose-6-phosphate dehydrogenase in inhabitants of the 4th Nile cataract region in Sudan.

Kempinska-Podhorodecka A et al.

Blood Cells, Molecules & Diseases, 2013

Clinical spectrum and severity of hemolytic anemia in glucose 6-phosphate dehydrogenase-deficient children receiving dapsone.

Pamba A et al.

Blood, 2012

Glucose-6-phosphate dehydrogenase deficiency, chlorproguanil-dapsone with artesunate and post-treatment haemolysis in African children treated for uncomplicated malaria.

Van Malderen C et al.

Malaria Journal, 2012

G6PD deficiency prevalence and estimates of affected populations in malaria endemic countries: a geostatistical model-based map.

Howes RE et al.

Plos Medicine, 2012

23152723 (PubMed )
Supplement: pmed.1001339.s010.pdf

Frequency of glucose-6-phosphate dehydrogenase deficiency in malaria patients from six African countries enrolled in two randomized anti-malarial clinical trials.

Carter N et al.

Malaria Journal, 2011

Hyperbilirubinemia in African American neonates: clinical issues and current challenges.

Watchko JF

Seminars in Fetal & Neonatal Medicine, 2010

Exploring the genetic architecture of neonatal hyperbilirubinemia.

Watchko JF et al.

Seminars in Fetal & Neonatal Medicine, 2010

Rapid genotyping of two common G6PD variants, African (A-) and Mediterranean, by high-resolution melting analysis.

Joly P et al.

Clinical Biochemistry, 2010

Impact of the method of G6PD deficiency assessment on genetic association studies of malaria susceptibility.

Johnson MK et al.

Plos One, 2009

Allelic heterogeneity of G6PD deficiency in West Africa and severe malaria susceptibility.

Clark TG et al.

European Journal of Human Genetics : Ejhg, 2009

A novel point mutation in a class IV glucose-6-phosphate dehydrogenase variant (G6PD São Paulo) and polymorphic G6PD variants in São Paulo State, Brazil.

Oliveira RA et al.

Genetics and Molecular Biology, 2009

G6PD deficiency: the genotype-phenotype association.

Mason PJ et al.

Blood Reviews, 2007

Duffy blood group genotypes among African-Brazilian communities of the Amazon region.

Perna SJ et al.

Genetics and Molecular Research : Gmr, 2007

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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."