Varaico: Literature-Extracted Genetic Variants

Gene:DNMT3A
Variant:p.R320*
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DNMT3A

NM_022552.5:p.R320*

Associated Papers

A framework for the molecular identification of CHIP for clinical research.

Harraka P et al.

Hgg Advances, 2026

41566785 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

Clonal hematopoiesis associates with prevalent and incident cardiometabolic disease in a cardiac catheterization cohort.

Regan JA et al.

Plos One, 2026

41666166 (PubMed )
Supplement: pone.0339491.s009.xlsx › S4_Table

Prognostic significance of somatic mutations in myeloid cells of men with chronic heart failure - interaction between loss of Y chromosome and clonal haematopoiesis.

Cremer S et al.

European Journal of Heart Failure, 2025

40702883 (PubMed )
Supplement: EJHF-27-3219-s001.zip › Tables_S1_und_S2_final.xlsx › S1

Clonal hematopoiesis in apparent treatment-resistant hypertension, insights from multiple medical centers and community-based cohorts.

Lv C et al.

Nature Aging, 2025

41286462 (PubMed )
Supplement: 43587_2025_1017_MOESM5_ESM.xlsx › Sheet3

Proteomic subtypes enrich current acute myeloid leukemia nomenclature and reflect intrinsic pathogenesis alongside aging.

Cheng WY et al.

Blood, 2025

40829168 (PubMed )
Supplement: BLOOD_BLD-2024-027692-mmc5.xlsx › Sheet_1

Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.

Salani F et al.

Esmo Open, 2025

41167083 (PubMed )
Supplement: mmc5.xlsx › Table_S12B

Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.

Newman H et al.

Hemasphere, 2025

41306327 (PubMed )
Supplement: HEM3-9-e70269-s013.xlsx › Supplemental_Table_5_-_SSVs

Clonal haematopoiesis associates with distinct cytometric changes of red blood cells and platelets.

Salzbrunn JB et al.

British Journal of Haematology, 2025

40754673 (PubMed )
Supplement: BJH-207-1085-s002.xlsx › CH_cohort

Prognostic significance of circulating tumor DNA alterations in advanced renal cell carcinoma from SCRUM-Japan MONSTAR-SCREEN: a nationwide genomic profiling project.

Kato T et al.

British Journal of Cancer, 2025

40325148 (PubMed )
Supplement: 41416_2025_2985_MOESM2_ESM.xlsx › Supplementary_Table_S2

UNISOM: Unified Somatic Calling and Machine Learning-based Classification Enhance the Discovery of CHIP.

Tian S et al.

Genomics, Proteomics & Bioinformatics, 2025

40300108 (PubMed )
Supplement: qzaf040_supplementary_data.zip › Table_S6.xlsx › Sheet1

Genomic and transcriptomic determinants of clinical outcomes in patients with AML and DNMT3A mutations.

Ni SC et al.

Blood Cancer Journal, 2025

40389402 (PubMed )
Supplement: 41408_2025_1287_MOESM2_ESM.xlsx › ___1

Characterization of Genetic Landscape and Novel Inflammatory Biomarkers in Patients With Adult-Onset Still's Disease.

Topping J et al.

Arthritis & Rheumatology (hoboken, N.j.), 2025

Double mutant DNMT3A AML: a unique subtype experiencing increased DNA damage and poor prognosis.

Boertjes EL et al.

Blood Advances, 2025

39693514 (PubMed )
Supplement: BLOODA_ADV-2024-014698-mmc1.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

Clonal Hematopoiesis Associates with Prevalent and Incident Cardiometabolic Disease in High-Risk Individuals.

Regan JA et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

39867361 (PubMed )
Supplement: media-1.xlsx › Supplemental_Table_4

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

Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 Alpha.

German RJ et al.

American Journal of Medical Genetics. Part A, 2025

Risk prediction for clonal cytopenia: multicenter real-world evidence.

Xie Z et al.

Blood, 2024

38996210 (PubMed )
Supplement: BLOOD_BLD-2024-024756-mmc1.pdf

Impact of cancer therapy on clonal hematopoiesis mutations and subsequent clinical outcomes.

Nead KT et al.

Blood Advances, 2024

38830141 (PubMed )
Supplement: BLOODA_ADV-2024-012929-mmc1.xlsx › STable_2

Unidirectional association of clonal hematopoiesis with atherosclerosis development.

Díez-Díez M et al.

Nature Medicine, 2024

39215150 (PubMed )
Supplement: 41591_2024_3213_MOESM3_ESM.xlsx › Supplementary_Table_2

Landscape of biallelic DNMT3A mutant myeloid neoplasms.

Kawashima N et al.

Journal of Hematology & Oncology, 2024

39334207 (PubMed )
Supplement: 13045_2024_1607_MOESM2_ESM.xlsx › Table_S8

Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome.

Totten V et al.

Journal of Medical Genetics, 2024

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM10_ESM.xlsx › S10

EBV+ nodal T/NK-cell lymphoma associated with clonal hematopoiesis and structural variations of the viral genome.

Kato S et al.

Blood Advances, 2024

38429084 (PubMed )
Supplement: BLOODA_ADV-2023-012019-mmc1.pdf

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

Aging and comprehensive molecular profiling in acute myeloid leukemia.

Li JF et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

38422020 (PubMed )
Supplement: pnas.2319366121.sd02.xlsx › Sheet_1

Long-term longitudinal analysis of 4,187 participants reveals new insights into determinants of incident clonal hematopoiesis.

Uddin MM et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37732181 (PubMed )
Supplement: media-2.xlsx › Table_S2

Circulating Tumor DNA Analysis on Metastatic Prostate Cancer with Disease Progression.

Bang S et al.

Cancers, 2023

37568814 (PubMed )
Supplement: cancers-15-03998-s001.zip › Supplementary_Table_S3_Gene_Panel_Information.xlsx › Somatic_variants

Leukocytes carrying Clonal Hematopoiesis of Indeterminate Potential (CHIP) Mutations invade Human Atherosclerotic Plaques.

von Scheidt M et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37546840 (PubMed )
Supplement: media-1.pdf

Whole Exome Sequencing Reveals Novel Variants in Unexplained Erythrocytosis.

Khurana H et al.

Omics : a Journal of Integrative Biology, 2023

Acquired mutations in BAX confer resistance to BH3-mimetic therapy in acute myeloid leukemia.

Moujalled DM et al.

Blood, 2023

36219880 (PubMed )
Supplement: BLOOD_BLD-2022-016090-mmc1.pdf

Acute myeloid leukemia with concurrent NPM1 and RUNX1 mutations.

Zuo Z et al.

Leukemia Research Reports, 2023

Transcriptome-based molecular subtypes and differentiation hierarchies improve the classification framework of acute myeloid leukemia.

Cheng WY et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

36442087 (PubMed )
Supplement: pnas.2211429119.sapp.pdf

Compartment-specific mutational landscape of clonal hematopoiesis.

Hartmann L et al.

Leukemia, 2022

36131041 (PubMed )
Supplement: 41375_2022_1700_MOESM1_ESM.pdf

Genomic landscape of patients with FLT3-mutated acute myeloid leukemia (AML) treated within the CALGB 10603/RATIFY trial.

Jahn N et al.

Leukemia, 2022

35922444 (PubMed )
Supplement: 41375_2022_1650_MOESM2_ESM.xlsx › NGS_dataset

Utility of plasma cell-free DNA for de novo detection and quantification of clonal hematopoiesis.

Gutierrez-Rodrigues F et al.

Haematologica, 2022

34587721 (PubMed )
Supplement: 2021_279230_GUTIERREZ-RODRIGUES_SUPPL.pdf

Germline Abnormalities in DNA Methylation and Histone Modification and Associated Cancer Risk.

Fernandez JA et al.

Current Hematologic Malignancy Reports, 2022

Mediating and maintaining methylation while minimizing mutation: Recent advances on mammalian DNA methyltransferases.

Cheng X et al.

Current Opinion in Structural Biology, 2022

The longitudinal dynamics and natural history of clonal haematopoiesis.

Fabre MA et al.

Nature, 2022

35650444 (PubMed )
Supplement: 41586_2022_4785_MOESM11_ESM.xlsx › historical_growth
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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."