Varaico: Literature-Extracted Genetic Variants

Gene:DNMT3A
Variant:p.R635W
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DNMT3A

NM_022552.5:p.R635W

Associated Papers

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

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

Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations.

Colin-Leitzinger C et al.

Human Genomics, 2025

41331781 (PubMed )
Supplement: 40246_2025_847_MOESM1_ESM.pdf

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

Salani F et al.

Esmo Open, 2025

41167083 (PubMed )
Supplement: mmc4.xlsx › Table_S10B

Detection of minimal residual disease in circulating cell-free DNA in acute myeloid leukemia.

Sommer C et al.

Scientific Reports, 2025

40987801 (PubMed )
Supplement: 41598_2025_20589_MOESM1_ESM.pdf

A founder heterozygous mutation in Methyl-CpG binding domain protein 4 (MBD4) prevalent among Israeli Christian Arabs predisposes to increased mutagenesis.

Dadi G et al.

Haematologica, 2025

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

Impact of Carrying DNMT3A or TET2 Mutations on Plaque Characteristics and Prognosis in Patients With STEMI Based on OCT.

Sun Q et al.

Circulation. Cardiovascular Imaging, 2025

40755316 (PubMed )
Supplement: circcvim-2024-017915-s03.pdf

Germline and somatic variants in DNMT3A and other clonal haematopoiesis of indeterminate potential genes contribute to pulmonary arterial hypertension.

Al-Qazazi R et al.

European Heart Journal, 2025

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

Whole-Exome Sequencing Reveals High Prevalence of Germline Alterations in Neuroendocrine Neoplasms.

Sukrithan V et al.

Journal of the National Comprehensive Cancer Network : Jnccn, 2025

40588228 (PubMed )
Supplement: jnccn240295SupplementaryData1.pdf

Clonal Evolution of PPM1D Mutations in the Spectrum of Myeloid Disorders.

Fandrei D et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

Impact of myelodysplasia-related gene mutations and residual mutations at remission in venetoclax/azacitidine for AML.

Ikoma Y et al.

Leukemia, 2025

40259101 (PubMed )
Supplement: 41375_2025_2625_MOESM2_ESM.xlsx › Sheet5

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

Clonal hematopoiesis landscape in frequent blood donors.

Karpova D et al.

Blood, 2025

40067117 (PubMed )
Supplement: EMS204243-supplement-Supplementary_Table_1.xlsx › Suppl.Table14

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

Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.

Hiitola E et al.

Science Advances, 2025

40305610 (PubMed )
Supplement: sciadv.adt9846_tables_s1_to_s13.zip › adt9846_tables_s1_to_s13.xlsx › S10

Large clones of clonal hematopoiesis affect outcome in mantle cell lymphoma: results from the FIL MCL0208 clinical trial.

Ragaini S et al.

Blood Advances, 2025

39808795 (PubMed )
Supplement: BLOODA_ADV-2024-014948-mmc1.pdf

SOD2 is a regulator of proteasomal degradation promoting an adaptive cellular starvation response.

Ibrahim NK et al.

Cell Reports, 2025

40131931 (PubMed )
Supplement: NIHMS2076693-supplement-3.xlsx › Cell_Line_Characteristics

Inferred clonal hematopoiesis from tumor DNA sequencing among men with prostate cancer: correlation with somatic tumor alterations and outcomes.

Iranmanesh Y et al.

The Oncologist, 2025

40260993 (PubMed )
Supplement: oyaf049_suppl_supplementary_tables_1.xlsx › Sheet1

PPM1D Mutation as a Distinct Feature of Myeloid Neoplasms in B-Cell Non-Hodgkin Lymphoma Patients: A Retrospective Analysis.

Kim H et al.

Cancers, 2025

40227763 (PubMed )
Supplement: cancers-17-01185-s001.zip › Supplementary_Table_S2_BNHL.xlsx › Sheet1

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

Boertjes EL et al.

Blood Advances, 2025

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

Clinical Validation of Local Versus Commercial Genomic Testing in Cancer: A Comparison of Tissue and Plasma Concordance.

Faulkner LG et al.

Cancer Investigation, 2025

39989311 (PubMed )
Supplement: supplement_1.pdf

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

Detection of KMT2A Partial Tandem Duplication by Optical Genome Mapping in Myeloid Neoplasms: Associated Cytogenetics, Gene Mutations, Treatment Responses, and Patient Outcomes.

Wei Q et al.

Cancers, 2024

Impact of cytotoxic therapy on clonal hematopoiesis and myeloid neoplasms in breast cancer patients.

Kim H et al.

Medicine, 2024

39560556 (PubMed )
Supplement: medi-103-e40540-s001.xlsx › Table_S1

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

A case of familial donor-derived acute myeloid leukemia with underlying pre-leukemic mutations.

Cappelli LV et al.

Haematologica, 2024

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

Clonal hematopoiesis is associated with cardiovascular events in patients with stable coronary artery disease.

Dregoesc MI et al.

Iscience, 2024

38558938 (PubMed )
Supplement: mmc4.xlsx › Variant_characteristics

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

Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting.

Kubota Y et al.

Nature Communications, 2024

38418452 (PubMed )
Supplement: 41467_2024_46134_MOESM5_ESM.xlsx › Supplementary_Data_2

Molecular Genetic Profile of Myelofibrosis: Implications in the Diagnosis, Prognosis, and Treatment Advancements.

Verma T et al.

Cancers, 2024

An Investigation of the Immune Microenvironment and Genome during Lung Adenocarcinoma Development.

Wang Q et al.

Journal of Cancer, 2024

38370388 (PubMed )
Supplement: jcav15p1687s1.zip › Supplementary_Materials › Clinical_and_Genomic_Data.xlsx › Gene_mutation

Germline and Somatic Mutations in DNA Methyltransferase 3A (DNMT3A) Predispose to Pulmonary Arterial Hypertension (PAH) in Humans and Mice: Implications for Associated PAH.

Al-Qazazi R et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

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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."