Varaico: Literature-Extracted Genetic Variants

Gene:DNMT3A
Variant:p.R792H
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DNMT3A

NM_022552.5:p.R792H

Associated Papers

Integrating evidence from protein domains to identify cancer driver mutations.

Ostroverkhova D et al.

Protein Science : a Publication of the Protein Society, 2026

41556616 (PubMed )
Supplement: PRO-35-e70422-s002.xlsx › Table_S1

Clonal haematopoiesis of indeterminate potential and mortality in coronary artery disease.

von Scheidt M et al.

European Heart Journal, 2026

40900105 (PubMed )
Supplement: ehaf602_supplementary_data.pdf

Diagnostic relevance of SH2B3 mutations in suspected myeloid malignancies and acute leukemia: insights from a large-scale NGS-based screening study.

Ben Dhia L et al.

Blood Cancer Journal, 2025

41136376 (PubMed )
Supplement: 41408_2025_1392_MOESM2_ESM.pdf

Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis.

Wen S et al.

Nature Genetics, 2025

39948438 (PubMed )
Supplement: 41588_2025_2085_MOESM4_ESM.xlsx › ST_5

Increased local DNA methylation disorder in AMLs with DNMT3A-destabilizing variants and its clinical implication.

Lee D et al.

Nature Communications, 2025

39794314 (PubMed )
Supplement: 41467_2024_55691_MOESM8_ESM.xlsx › Fig._1i_1h

Clonal origins and divergent evolutionary relationships of synchronous multiple malignant neoplasms in gynecology revealed by next-generation sequencing.

Sheng J et al.

Cancer Treatment and Research Communications, 2025

Using human disease mutations to understand de novo DNA methyltransferase function.

Rolls W et al.

Biochemical Society Transactions, 2024

Genomic profiling and clinical utility of circulating tumor DNA in metastatic prostate cancer: SCRUM-Japan MONSTAR SCREEN project.

Shiota M et al.

Bjc Reports, 2024

39516321 (PubMed )
Supplement: 44276_2024_49_MOESM4_ESM.xlsx › supplementary_table_2

Cancer-driving mutations are enriched in genic regions intolerant to germline variation.

Vitsios D et al.

Science Advances, 2022

36026442 (PubMed )
Supplement: sciadv.abo6371_tables_s1_to_s13.zip › sciadv.abo6371_tables_s1_to_s13.xlsx › S4

The longitudinal dynamics and natural history of clonal haematopoiesis.

Fabre MA et al.

Nature, 2022

35650444 (PubMed )
Supplement: 41586_2022_4785_MOESM12_ESM.xlsx › AML

Systematic Profiling of DNMT3A Variants Reveals Protein Instability Mediated by the DCAF8 E3 Ubiquitin Ligase Adaptor.

Huang YH et al.

Cancer Discovery, 2022

34429321 (PubMed )
Supplement: cd-21-0560_supplementary_table_1_suppst1.xlsx › Sheet1

TET2 and DNMT3A mutations and exceptional response to 4'-thio-2'-deoxycytidine in human solid tumor models.

Yang SX et al.

Journal of Hematology & Oncology, 2021

Integrative pan cancer analysis reveals epigenomic variation in cancer type and cell specific chromatin domains.

Gopi LK et al.

Nature Communications, 2021

33658503 (PubMed )
Supplement: 41467_2021_21707_MOESM4_ESM.xlsx › DNMT_mutations

AML-Associated Mutations in DNA Methyltransferase DNMT3A.

Khrabrova DA et al.

Biochemistry. Biokhimiia, 2021

Functional Analysis of DNMT3A DNA Methyltransferase Mutations Reported in Patients with Acute Myeloid Leukemia.

Khrabrova DA et al.

Biomolecules, 2019

Investigation of screening method for DNMT3A mutations by high-resolution melting analysis in acute myeloid leukemia.

Mizuta S et al.

International Journal of Laboratory Hematology, 2019

Mechanistic Insights into Cytosine-N3 Methylation by DNA Methyltransferase DNMT3A.

Dukatz M et al.

Journal of Molecular Biology, 2019

Structural basis for DNMT3A-mediated de novo DNA methylation.

Zhang ZM et al.

Nature, 2018

Inter-Laboratory Evaluation of a Next-Generation Sequencing Panel for Acute Myeloid Leukemia.

Haslam K et al.

Molecular Diagnosis & Therapy, 2016

Human germline and pan-cancer variomes and their distinct functional profiles.

Pan Y et al.

Nucleic Acids Research, 2014

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

Tatton-Brown K et al.

Nature Genetics, 2014

24614070 (PubMed )
Supplement: NIHMS57002-supplement-1.pdf

Mutational landscape and significance across 12 major cancer types.

Kandoth C et al.

Nature, 2013

24132290 (PubMed )
Supplement: 41586_2013_BFnature12634_MOESM82_ESM.zip › nature12634-s1 › Supplementary_Table_5.xlsx › S_Table_5

DNMT3A mutations and clinical features in Chinese patients with acute myeloid leukemia.

Lu Q et al.

Cancer Cell International, 2013

Feature-based classification of amino acid substitutions outside conserved functional protein domains.

Gemovic B et al.

Thescientificworldjournal, 2013

24348198 (PubMed )
Supplement: 948617.f1.pdf

DNMT3A mutations in acute myeloid leukemia.

Ley TJ et al.

The New England Journal of Medicine, 2010

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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."