Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs147001633
rs147001633
0.800 GeneticVariation BEFREE DNMT3A R882H, a frequent mutation in acute myeloid leukemia (AML), plays a critical role in malignant hematopoiesis. 31703632

2019

dbSNP: rs147001633
rs147001633
0.800 GeneticVariation BEFREE R882H specific DNA hypermethylation events in AML patients were accompanied by R882H specific mis-regulation of several genes with strong cancer connection, which are potential downstream targets of R882H. 31620784

2019

dbSNP: rs147001633
rs147001633
0.800 GeneticVariation BEFREE DNMT3A R882H occurs frequently in various cancers, including acute myeloid leukemia, and our results suggest that the effects of R882H and other <i>DNMT3A</i> mutations may go beyond changes in DNMT3A methylation activity. 31640986

2019

dbSNP: rs147001633
rs147001633
0.800 GeneticVariation BEFREE The DNMT3A R882H mutation is frequently observed in acute myeloid leukemia (AML). 29518238

2018

dbSNP: rs147001633
rs147001633
0.800 GeneticVariation BEFREE The DNA methyltransferase DNMT3A R882H mutation is observed in 25% of all AML patients. 30185810

2018

dbSNP: rs147001633
rs147001633
0.800 GeneticVariation BEFREE The importance of the tetramer structure and cooperative mechanism is emphasized by the observation that the R882H mutation in the dimer interface of DNMT3A is highly prevalent in acute myeloid leukemia and leads to a substantial loss of its activity. 27768276

2018

dbSNP: rs147001633
rs147001633
0.800 GeneticVariation BEFREE This report represents the first documentation of the same variant (DNMT3A p.Arg882His) as both the constitutional mutation associated with TBRS and the somatic mutation hotspot of AML. 27991732

2017

dbSNP: rs147001633
rs147001633
0.800 GeneticVariation BEFREE Our results provided novel insight into the role of the DNMT3A R882H mutation in AML pathogenesis and suggested that targeting the cellular GSH synthetic pathway could enhance the current therapy for AML patients with the DNMT3A R882H mutation. 28418922

2017

dbSNP: rs147001633
rs147001633
0.800 GeneticVariation BEFREE To explore the features of human AML with the hotspot <i>DNMT3A</i> R882H mutation, we generated Dnmt3a R878H conditional knockin mice, which developed AML with enlarged Lin<sup>-</sup>Sca1<sup>+</sup>cKit<sup>+</sup> cell compartments. 28461508

2017

dbSNP: rs147001633
rs147001633
G 0.800 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs147001633
rs147001633
T 0.800 CausalMutation CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011

2016

dbSNP: rs147001633
rs147001633
0.800 GeneticVariation BEFREE Quantitative detection of DNMT3A R882H mutations at different time points of AML</span> disease enables screening of follow-up samples. 25994761

2015

dbSNP: rs147001633
rs147001633
0.800 GeneticVariation BEFREE To determine whether mutant IDH enzymes are valid targets for cancer therapy, we created a mouse model of AML in which mice were transplanted with nucleophosmin1 (NPM)(+/-) hematopoietic stem/progenitor cells cotransduced with four mutant genes (NPMc, IDH2/R140Q, DNMT3A/R882H, and FLT3/ITD), which often occur simultaneously in human AML patients. 25795706

2015

dbSNP: rs147001633
rs147001633
T 0.800 CausalMutation CLINVAR Molecular evaluation of DNMT3A and IDH1/2 gene mutation: frequency, distribution pattern and associations with additional molecular markers in normal karyotype Indian acute myeloid leukemia patients. 24606448

2014

dbSNP: rs147001633
rs147001633
0.800 GeneticVariation BEFREE AML cells with the R882H mutation have severely reduced de novo methyltransferase activity and focal hypomethylation at specific CpGs throughout AML cell genomes. 24656771

2014

dbSNP: rs147001633
rs147001633
T 0.800 CausalMutation CLINVAR AML cells with the R882H mutation have severely reduced de novo methyltransferase activity and focal hypomethylation at specific CpGs throughout AML cell genomes. 24656771

2014

dbSNP: rs147001633
rs147001633
T 0.800 CausalMutation CLINVAR The role of mutations in epigenetic regulators in myeloid malignancies. 22898539

2012

dbSNP: rs147001633
rs147001633
A 0.800 CausalMutation CLINVAR Cancer stem cells: Tracing clones. 22898540

2012

dbSNP: rs147001633
rs147001633
T 0.800 CausalMutation CLINVAR Three heterozygous mutations (p.R882S, p.R882C and p.R882H) were identified in three of 61 AML patients, whereas none of patients with other hematological disorders harbored any mutation. 22744846

2012

dbSNP: rs147001633
rs147001633
G 0.800 CausalMutation CLINVAR Retroviral oncogenes: a historical primer. 22898541

2012

dbSNP: rs147001633
rs147001633
T 0.800 CausalMutation CLINVAR [Analysis of DNMT3a gene mutations in acute myelogenous leukemia]. 21518476

2011

dbSNP: rs147001633
rs147001633
A 0.800 CausalMutation CLINVAR Impact of genetic features on treatment decisions in AML. 22160010

2011

dbSNP: rs147001633
rs147001633
T 0.800 CausalMutation CLINVAR Impact of genetic features on treatment decisions in AML. 22160010

2011

dbSNP: rs147001633
rs147001633
G 0.800 CausalMutation CLINVAR Impact of genetic features on treatment decisions in AML. 22160010

2011

dbSNP: rs147001633
rs147001633
T 0.800 CausalMutation CLINVAR DNMT3A mutations in acute myeloid leukemia. 21067377

2010