Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.R104H
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G6PD

NM_001360016.2:p.R104H

Associated Papers

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

Karafin MS et al.

Biorxiv : the Preprint Server for Biology, 2025

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

Powell NR et al.

Genetics, 2024

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

SIGMA leverages protein structural information to predict the pathogenicity of missense variants.

Zhao H et al.

Cell Reports Methods, 2024

38211594 (PubMed )
Supplement: mmc2.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

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

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

G6PD Variants and Haemolytic Sensitivity to Primaquine and Other Drugs.

Bancone G et al.

Frontiers in Pharmacology, 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

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

Concordance between glucose-6-phosphate dehydrogenase (G6PD) genotype and phenotype and rasburicase use in patients with hematologic malignancies.

Robinson KM et al.

The Pharmacogenomics Journal, 2019

Glucose-6-Phosphate Dehydrogenase: Update and Analysis of New Mutations around the World.

Gómez-Manzo S et al.

International Journal of Molecular Sciences, 2016

G6PD deficiency assessment in Freetown, Sierra Leone, reveals further insight into the molecular heterogeneity of G6PD A-.

Jalloh A et al.

Journal of Human Genetics, 2008

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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."