Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.D100N
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G6PD

NM_001360016.2:p.D100N

Associated Papers

Lack of association between G6PD variants and Parkinson disease.

Chifamba LV et al.

Hgg Advances, 2026

41376170 (PubMed )
Supplement: mmc2.xlsx › S_table_3_rare

Amplicon-based DNA sequencing to characterize Duffy antigen polymorphisms and analysis of Duffy blood system and glucose-6-phosphate dehydrogenase deficiency in Mauritania.

Fontaine A et al.

Plos Neglected Tropical Diseases, 2025

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

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

Ferreira NS et al.

Malaria Journal, 2022

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
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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."