Source: ALL
Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE MiR-148a increases glioma cell migration and invasion by downregulating GADD45A in human gliomas with IDH1 R132H mutations. 28445981

2018

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE Certain gliomas often harbor a mutation in the activity center of IDH1 (R132H), which leads to the production of the oncometabolite 2-R-2-hydroxyglutarate (2-HG). 29057925

2018

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE The R132H mutation in isocitrate dehydrogenase 1 (IDH1-R132H) is associated with better prognosis in glioma patients. 29115585

2018

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE IDH1 R132H mutation regulates glioma chemosensitivity through Nrf2 pathway. 28427200

2018

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE Overexpression of IDH1(R132H) in glioma cells resulted in slightly decreased cell proliferation, considerably reduced cell migration and caused differences in growth properties in 3D spheroid cultures. 26328938

2016

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE As the most frequent mutation, IDH1(R132H) has been served as a predictive marker of glioma patients. 26485760

2016

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE The IDH-mut status of most gliomas can be established by immunohistochemistry for the most common mutant of IDH1 (R132H). 26068765

2016

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE Diffuse adult HGGs with necrosis can be split into three histomolecular groups of prognostic relevance: 1p/19q co-deleted AO, IDH1 R132H-GBM and 1p/19q intact IDH1 R132H+ gliomas that might be classified as IDH1 R132H+ GBM. 25407774

2016

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE 37 gliomas were studied; 18 were positive for the IDH1-R132H mutation. 25849605

2016

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE R132H mutation in IDH1 gene reduces proliferation, cell survival and invasion of human glioma by downregulating Wnt/β-catenin signaling. 26860959

2016

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE We identified a single significant correlation resulting in increased overall survival from temozolomide in lower-grade glioma with IDH1 R132H mutations. 26936071

2016

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation UNIPROT Mutant IDH1 Dysregulates the Differentiation of Mesenchymal Stem Cells in Association with Gene-Specific Histone Modifications to Cartilage- and Bone-Related Genes. 26161668

2016

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE Moreover, a truncating CIC mutation resulted in a defect of nuclear targeting of CIC protein to the nucleus in a human glioma cell line expressing IDH1(R132H) and overexpression of CCND1 and other new target genes of CIC, such as DUSP4 and SPRED1. 26017892

2015

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE Over 70% of low-grade gliomas carry a heterozygous R132H mutation in the gene coding for isocitrate dehydrogenase 1 (IDH1). 25243911

2015

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE In this study, we generated clonal U87 and U251 glioma cell lines overexpressing the R132H mutant protein (IDH1-R132H). 25283382

2015

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE Several inhibitors were found to be permeable through the blood-brain barrier in a cell-based model assay and exhibit potent and selective activity (EC50 = 0.26-1.8 μM) against glioma cells with the IDH1 R132H mutation. 25271760

2015

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE IDH1 R132H mutation generates a distinct phospholipid metabolite profile in glioma. 25005896

2015

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE Using murine glioma progenitor cells, we demonstrate that IDH1(R132H) exerts a growth-inhibitory effect that is paralleled by deficiency in metabolic flux from glucose and glutamine to lipids. 25225364

2015

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE Increased expression of the IDH1-R132H mutation is associated with seizures in low grade gliomas and also with the protoplasmic subtype. 24903073

2014

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE As IDH1(R132H) is present in all tumour cells of these slow-growing gliomas, a mutation-specific anti-IDH1(R132H) vaccine may represent a viable novel therapeutic strategy for IDH1(R132H)-mutated tumours. 25043048

2014

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE Based on these results, we concluded that glutaminolysis is activated in gliomas with IDH1-R132H mutation and that development of novel therapeutic approaches targeting activated glutaminolysis is warranted. 24590270

2014

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE Of 158 tumors with sufficient tissue, 110 (70 %) showed nuclear cMYC immunopositivity--most frequent (95 %, χ(2) p = 0.0248) and intense (mean 1.33, ANOVA p = 0.0179) in anaplastic astrocytomas versus glioblastomas (63 %) or low grade gliomas (74 %). cMYC expression associated with younger age as well as p53 immunopositivity (OR = 3.6, p = 0.0332) and mutant IDH1 (R132H) (OR = 7.4, p = 0.06) among malignant gliomas in our cohort. 23934175

2014

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE In conclusion, the association of a C-terminally truncated form of αB-crystallin protein with the IDH1(R132H) mutation is a novel finding that could impact apoptosis and stress response in IDH1 mutant glioma. 24473683

2014

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE We therefore analysed IDH1 and IDH2 status at codon 132 of IDH1 and codon 172 of IDH2 by direct sequencing and anti-IDH1-R132H immunohistochemistry in 53 paired samples and their recurrences, including 29 low-grade gliomas, 16 anaplastic gliomas and 8 Glioblastomas. 23840696

2014

dbSNP: rs121913500
rs121913500
0.800 GeneticVariation BEFREE IDH1 sequencing revealed two mutations (IDH1 (R132G) , IDH1 (R132C) ) out of 7 DIBG whereas the R132H IDH1 enzyme was detected in 1/17 DIBG, suggesting that IDH1 mutations are mostly non R132H in DIBG (2/2), in contrast to supratentorial gliomas (31/313; p = 0.01). 24242757

2014