Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.M212V
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G6PD

NM_001360016.2:p.M212V

Associated Papers

Rapid detection of G6PD deficiency SNPs using a novel amplicon-based minion sequencing assay.

Tacoli C et al.

Scientific Reports, 2025

41423656 (PubMed )
Supplement: 41598_2025_31822_MOESM3_ESM.xlsx › Sheet1

Rapid detection of G6PD deficiency SNPs using a novel amplicon-based MinION Sequencing Assay.

Tacoli C et al.

Biorxiv : the Preprint Server for Biology, 2025

40666837 (PubMed )
Supplement: media-2.xlsx › Sheet1

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

Molecular dynamics of G6PD variants from sub-Saharan Africa.

Batista da Rocha J et al.

Biochemistry and Biophysics Reports, 2022

Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Lanillos J et al.

Npj Genomic Medicine, 2022

35181665 (PubMed )
Supplement: 41525_2022_283_MOESM2_ESM.xlsx › Alleles

G6PD distribution in sub-Saharan Africa and potential risks of using chloroquine/hydroxychloroquine based treatments for COVID-19.

da Rocha JEB et al.

The Pharmacogenomics Journal, 2021

Glucose-6-Phosphate Dehydrogenase Deficiency: An Overview of the Prevalence and Genetic Variants in Saudi Arabia.

Hamali HA

Hemoglobin, 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 › gnomAD

A novel G6PD deleterious variant identified in three families with severe glucose-6-phosphate dehydrogenase deficiency.

Tong Y et al.

Bmc Medical Genetics, 2020

G6PD variant distribution in sub-Saharan Africa and potential risks of using chloroquine/hydroxychloroquine based treatments for COVID-19.

da Rocha J et al.

Medrxiv : the Preprint Server for Health Sciences, 2020

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

Doss CG et al.

Scientific Reports, 2016

Prevalence and molecular characterization of G6PD deficiency in two Plasmodium vivax endemic areas in Venezuela: predominance of the African A-(202A/376G) variant.

Vizzi E et al.

Malaria Journal, 2016

Five novel glucose-6-phosphate dehydrogenase deficiency haplotypes correlating with disease severity.

Dallol A et al.

Journal of Translational Medicine, 2012

Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency in south-east Sicily.

Cittadella R et al.

Annals of Human Genetics, 1997

Molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) variants in Italy.

Martinez di Montemuros F et al.

Haematologica, 0

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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."