Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.R198H
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G6PD

NM_001360016.2:p.R198H

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

Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.

Lanillos J et al.

Npj Genomic Medicine, 2022

35181665 (PubMed )
Supplement: 41525_2022_283_MOESM2_ESM.xlsx › Alleles

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

Coupling between Protein Stability and Catalytic Activity Determines Pathogenicity of G6PD Variants.

Cunningham AD et al.

Cell Reports, 2017

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

Gómez-Manzo S et al.

International Journal of Molecular Sciences, 2016

Spatial distribution of G6PD deficiency variants across malaria-endemic regions.

Howes RE et al.

Malaria Journal, 2013

24228846 (PubMed )
Supplement: 1475-2875-12-418-S2.docx

Glucose-6-phosphate dehydrogenase (G6PD) mutations database: review of the "old" and update of the new mutations.

Minucci A et al.

Blood Cells, Molecules & Diseases, 2012

G6PD deficiency prevalence and estimates of affected populations in malaria endemic countries: a geostatistical model-based map.

Howes RE et al.

Plos Medicine, 2012

23152723 (PubMed )
Supplement: pmed.1001339.s010.pdf

A novel R198H mutation in the glucose-6-phosphate dehydrogenase gene in the tribal groups of the Nilgiris in Southern India.

Chalvam R et al.

Journal of Human Genetics, 2008

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

Merritt J et al.

Biotechnology and Bioengineering, 2005

Glucose-6-phosphate dehydrogenase deficiency & neonatal hyperbilirubinaemia.

Madan N et al.

The Indian Journal of Medical Research, 1989

Incidence of glucose-6-phosphate dehydrogenase deficiency in a hospital population of Delhi.

Madan N et al.

The Indian Journal of Medical Research, 1981

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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."