Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.R182Q
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G6PD

NM_001360016.2:p.R182Q

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_5__six_G6PD_missense

Enhancing NADPH to restore redox homeostasis and lysosomal function in G6PD-deficient microglia.

Mondal A et al.

Heliyon, 2025

G6PD deficiency triggers dopamine loss and the initiation of Parkinson's disease pathogenesis.

Stykel MG et al.

Cell Reports, 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

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

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.

Cheema H et al.

Npj Genomic Medicine, 2020

33083013 (PubMed )
Supplement: 41525_2020_150_MOESM1_ESM.pdf
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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."