Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.E156K
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G6PD

NM_001360016.2:p.E156K

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

Genetic variation of human G6PD impacts Red Blood Cell transfusion efficacy.

Karafin MS et al.

Biorxiv : the Preprint Server for Biology, 2025

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 analysis of G6PD variants associated with low G6PD activity in the All of Us Research Program.

Powell NR et al.

Genetics, 2024

39607789 (PubMed )
Supplement: iyae170_supplementary_data.zip › Table_S12_GENETICS-2024-307089.xlsx › Table_S12

Functional Analysis of G6PD Variants Associated With Low G6PD Activity in the All of Us Research Program.

Powell NR et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38645242 (PubMed )
Supplement: NIHPP2024.04.12.24305393v1-supplement-3.pdf

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

Genetic Variants of Glucose-6-Phosphate Dehydrogenase and Their Associated Enzyme Activity: A Systematic Review and Meta-Analysis.

Pfeffer DA et al.

Pathogens (basel, Switzerland), 2022

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

Seven novel glucose-6-phosphate dehydrogenase (G6PD) deficiency variants identified in the Qatari population.

Malik S et al.

Human Genomics, 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

African glucose-6-phosphate dehydrogenase alleles associated with protection from severe malaria in heterozygous females in Tanzania.

Manjurano A et al.

Plos Genetics, 2015

Comparison of quantitative and qualitative tests for glucose-6-phosphate dehydrogenase deficiency.

LaRue N et al.

The American Journal of Tropical Medicine and Hygiene, 2014

A novel G473A mutation in the glucose-6-phosphate dehydrogenase gene.

Chen X et al.

Pediatric Blood & Cancer, 2010

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