Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.D200N
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G6PD

NM_001360016.2:p.D200N

Associated Papers

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

Allosteric role of a structural NADP+ molecule in glucose-6-phosphate dehydrogenase activity.

Wei X et al.

Proceedings of the National Academy of Sciences of the United States of America, 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

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

Merritt J et al.

Biotechnology and Bioengineering, 2005

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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."