Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.K238R
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G6PD

NM_001360016.2:p.K238R

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

Computational analysis of dimer G6PD structure to elucidate pathogenicity of G6PD variants.

Chandran S et al.

Biomedicine, 2024

An Overall View of the Functional and Structural Characterization of Glucose-6-Phosphate Dehydrogenase Variants in the Mexican Population.

Hernández-Ochoa B et al.

International Journal of Molecular Sciences, 2023

A computational study of structural analysis of Class I human glucose-6-phosphate dehydrogenase (G6PD) variants: Elaborating the correlation to chronic non-spherocytic hemolytic anemia (CNSHA).

Alakbaree M et al.

Computational Biology and Chemistry, 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

Stabilization of glucose-6-phosphate dehydrogenase oligomers enhances catalytic activity and stability of clinical variants.

Garcia AA et al.

The Journal of Biological Chemistry, 2022

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

Tong Y et al.

Bmc Medical Genetics, 2020

Cloning and biochemical characterization of three glucose‑6‑phosphate dehydrogenase mutants presents in the Mexican population.

Cortés-Morales YY et al.

International Journal of Biological Macromolecules, 2018

Functional and Biochemical Characterization of Three Recombinant Human Glucose-6-Phosphate Dehydrogenase Mutants: Zacatecas, Vanua-Lava and Viangchan.

Gómez-Manzo S et al.

International Journal of Molecular Sciences, 2016

Mutations of Glucose-6-Phosphate Dehydrogenase Durham, Santa-Maria and A+ Variants Are Associated with Loss Functional and Structural Stability of the Protein.

Gómez-Manzo S et al.

International Journal of Molecular Sciences, 2015

Glucose-6-phosphate dehydrogenase--beyond the realm of red cell biology.

Ho HY et al.

Free Radical Research, 2014

G6PD deficiency in Latin America: systematic review on prevalence and variants.

Monteiro WM et al.

Memorias Do Instituto Oswaldo Cruz, 2014

Parallel analysis of mutant human glucose 6-phosphate dehydrogenase in yeast using PCR colonies.

Merritt J et al.

Biotechnology and Bioengineering, 2005

Structural studies of glucose-6-phosphate and NADP+ binding to human glucose-6-phosphate dehydrogenase.

Kotaka M et al.

Acta Crystallographica. Section D, Biological Crystallography, 2005

In silico model-driven assessment of the effects of single nucleotide polymorphisms (SNPs) on human red blood cell metabolism.

Jamshidi N et al.

Genome Research, 2002

Human glucose-6-phosphate dehydrogenase: the crystal structure reveals a structural NADP(+) molecule and provides insights into enzyme deficiency.

Au SW et al.

Structure (london, England : 1993), 2000

Glucose-6-phosphate dehydrogenase (G-6-PD) mutations in Mexico: four new G-6-PD variants.

Vaca G et al.

Blood Cells, Molecules & Diseases, 0

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