Varaico: Literature-Extracted Genetic Variants

Gene:G6PD
Variant:p.R198C
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G6PD

NM_001360016.2:p.R198C

Associated Papers

Association between G6PD gene variants and adverse pregnancy outcomes.

Guo D et al.

Bmc Pregnancy and Childbirth, 2026

Ethnic Variation in G6PD Deficiency: Epidemiology and Mutation Spectrum in Southern China's Multiethnic Hub, Nanning.

Yang J et al.

Clinical Genetics, 2026

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

Glucose 6-phosphate dehydrogenase deficiency and Southeast Asian-specific mutations lower HbA1c levels in a Thai population: implications for diabetes diagnosis.

Mungkalasut P et al.

Diabetologia, 2025

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

Establishment of reference interval (RI) for G6PD/6PGD ratio in adults from Yangjiang, China.

Wang Z et al.

Annals of Hematology, 2025

Human genetic variations conferring resistance to malaria.

Zhang X et al.

Journal of Translational Medicine, 2025

Screening G6PD Mutations in Blood Donors by Matrix-Assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometry with High-Throughput and Multiple Targets.

Li Z et al.

The Journal of Molecular Diagnostics : Jmd, 2025

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

Integrated Phenotypic and Genotypic Approaches for Accurate Diagnosis of G6PD Deficiency: Implications for Drug Safety in Thailand.

Pengsuk N et al.

Pharmacology Research & Perspectives, 2025

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

Characteristics of glucose-6-phosphate dehydrogenase mutations in newborns with deficiency from 2021 to 2022 in the Heze area of China.

Zhang X et al.

Frontiers in Immunology, 2025

Spectrum of glucose-6-phosphate dehydrogenase (G6PD) mutations and trends in hemoglobin levels among adult dengue patients in Thailand.

Chamnanchanunt S et al.

Plos One, 2025

G6PD deficiency in Malaysia's Proto-Malay Orang Asli indigenous population: A molecular and epidemiological study.

Zailani MAH et al.

Plos One, 2025

Functional analysis of G6PD variants associated with low G6PD activity in the All of Us Research Program.

Powell NR et al.

Genetics, 2024

Exploring Appropriate Reference Intervals and Clinical Decision Limits for Glucose-6-Phosphate Dehydrogenase Activity in Individuals From Guangzhou, China.

Huang Z et al.

Annals of Laboratory Medicine, 2024

Prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Gia Lai Province, Vietnam.

Võ TC et al.

Parasitology International, 2024

Functional Analysis of G6PD Variants Associated With Low G6PD Activity in the All of Us Research Program.

Powell NR et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Newborn screening for G6PD deficiency in HeFei, FuYang and AnQing, China: Prevalence, cut-off value, variant spectrum.

Li H et al.

Journal of Medical Biochemistry, 2024

Screening results and mutation frequency analysis of G6PD deficiency in 1,291,274 newborns in Huizhou, China: a twenty-year experience.

Zhang Z et al.

Annals of Hematology, 2024

Screening and the analysis of genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Fujian province, China.

Zhou J et al.

Frontiers in Genetics, 2024

Molecular epidemiological characteristics, variant spectrum and genotype-phenotype correlation of glucose-6-phosphate dehydrogenase deficiency in China: A population-based multicenter study using newborn screening.

Tan M et al.

Plos One, 2024

Single-Drop Blood Detection of Common G6PD Mutations in Thailand Based on Allele-Specific Recombinase Polymerase Amplification with CRISPR-Cas12a.

Mungkalasut P et al.

Acs Omega, 2023

Efficient high-precision homology-directed repair-dependent genome editing by HDRobust.

Riesenberg S et al.

Nature Methods, 2023

Hemoglobinopathies, merozoite surface protein-2 gene polymorphisms, and acquisition of Epstein Barr virus among infants in Western Kenya.

Olewe PK et al.

Bmc Cancer, 2023

Prevalence and molecular analysis of glucose-6-phosphate dehydrogenase deficiency in Chin State, Myanmar.

Aung JM et al.

Parasites, Hosts and Diseases, 2023

Genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Guangzhou, China.

Li Z et al.

Human Genomics, 2023

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

Molecular Heterogeneity of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency in the Portuguese Population.

Manco L et al.

Acta Medica Portuguesa, 2023

Performance of a Commercial Multiplex Allele-Specific Polymerase Chain Reaction Kit to Genotype African-Type Glucose-6-Phosphate Dehydrogenase Deficiency.

Djigo OKM et al.

The American Journal of Tropical Medicine and Hygiene, 2023

Mutation spectrum and enzyme profiling of G6PD deficiency in neonates of north India: a prospective study.

Bhattacharyya U et al.

Journal of Genetics, 2023

Prevalence and molecular heterogeneity of glucose-6-phosphate dehydrogenase (G6PD) deficiency in the Senoi Malaysian Orang Asli population.

Xuan-Rong Koh D et al.

Plos One, 2023

Glucose-6-phosphate dehydrogenase deficiency screening and gene analysis in blood donors of Guangdong province.

Liang HF et al.

Hematology (amsterdam, Netherlands), 2022

Cytochrome P450 2D6 (CYP2D6) and glucose-6-phosphate dehydrogenase (G6PD) genetic variations in Thai vivax malaria patients: Implications for 8-aminoquinoline radical cure.

Chamchoy K et al.

Plos Neglected Tropical Diseases, 2022

Genetic Variants of Glucose-6-Phosphate Dehydrogenase and Their Associated Enzyme Activity: A Systematic Review and Meta-Analysis.

Pfeffer DA et al.

Pathogens (basel, Switzerland), 2022

Identification of a Novel Hb H Disease with Glucose-6-Phosphate Dehydrogenase Deficiency Using Whole Genome Sequencing.

Ren ZM et al.

Hemoglobin, 2022

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

[Genetic Mutation Characteristics of Glucose-6-Phosphate Dehydrogenase Deficiency Patients in Wuhan].

Li H et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2022

Prevalence of Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency among Malaria Patients in Southern Thailand: 8 Years Retrospective Study.

Khammanee T et al.

The Korean Journal of Parasitology, 2022

Molecular Characterization and Genotype-Phenotype Correlation of G6PD Mutations in Five Ethnicities of Northern Vietnam.

Ngo TT et al.

Anemia, 2022

Evaluation of strategies for identification of infants with pathogenic glucose-6-phosphate dehydrogenase variants in China.

Xia Z et al.

Frontiers in Genetics, 2022

Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in neonates in Wuhan: Description of four novel variants.

Shen S et al.

Frontiers in Genetics, 2022

Prevalence of G6PD deficiency and G6PD variants amongst the southern Thai population.

Nuinoon M et al.

Peerj, 2022

Genotype-phenotype association and biochemical analyses of glucose-6-phosphate dehydrogenase variants: Implications for the hemolytic risk of using 8-aminoquinolines for radical cure.

Sudsumrit S et al.

Frontiers in Pharmacology, 2022

Severe G6PD deficiency leads to recurrent infections and defects in ROS production: Case report and literature review.

Sun B et al.

Frontiers in Genetics, 2022

Simultaneous detection of G6PD mutations using SNPscan in a multiethnic minority area of Southwestern China.

Wei H et al.

Frontiers in Genetics, 2022

Distribution of G6PD deficiency genotypes among Southeast Asian populations.

Tantular IS et al.

Tropical Medicine and Health, 2021

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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."