Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.R198S
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G6PD

NM_001360016.2:p.R198S

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

Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.

Gagoski D et al.

Protein Science : a Publication of the Protein Society, 2025

41088778 (PubMed )
Supplement: PRO-34-e70317-s008.xlsx › _S6_-_PTMVar_-_cSrc

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

Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.

Gagoski D et al.

Biorxiv : the Preprint Server for Biology, 2025

39764007 (PubMed )
Supplement: media-1.xlsx › _S6_-_PTMVar_-_cSrc

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 exerts antistress effects independently of its enzymatic activity.

Jin X et al.

The Journal of Biological Chemistry, 2022

Glucose-6-Phosphate Dehydrogenase Deficiency and Neonatal Hyperbilirubinemia: Insights on Pathophysiology, Diagnosis, and Gene Variants in Disease Heterogeneity.

Lee HY et al.

Frontiers in Pediatrics, 2022

A greater awareness of children with glucose-6-phosphate dehydrogenase deficiency is imperative in western countries.

Kristensen L et al.

Acta Paediatrica (oslo, Norway : 1992), 2021

Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a de novo occurrence.

Canu G et al.

Human Genome Variation, 2018

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

Gómez-Manzo S et al.

International Journal of Molecular Sciences, 2016

Severe G6PD Deficiency Due to a New Missense Mutation in an Infant of Northern European Descent.

Warny M et al.

Journal of Pediatric Hematology/oncology, 2015

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."