Varaico: Literature-Extracted Genetic Variants

Gene:NPM1
Variant:p.L287fs
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NPM1

NM_002520.7:p.L287fs

Associated Papers

Single-cell profiling reveals reprogrammed hierarchy and disrupted immune-stromal ecosystem in TP53-mutated AML.

Qiu G et al.

Experimental Hematology & Oncology, 2026

41634865 (PubMed )
Supplement: 40164_2026_751_MOESM3_ESM.xlsx › Sheet1

Clonal architecture of FLT3-ITD and acquired 13q uniparental disomy define prognostic heterogeneity and therapeutic vulnerabilities in acute myeloid leukemia.

Lai A et al.

Neoplasia (new York, N.y.), 2025

41411742 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Integrated Genomic and Transcriptomic Profiling of Isolated Trisomies in AML Reveals Cell Cycle Dysregulation and Therapeutic Vulnerabilities.

Maués JHDS et al.

Journal of Cellular and Molecular Medicine, 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

The clinical utility and prognostic value of next-generation sequencing for measurable residual disease assessment in acute myeloid leukemia.

Liu Y et al.

Therapeutic Advances in Hematology, 2025

OncotreeVIS-an interactive graphical user interface for visualizing mutation tree cohorts.

Baciu-Drăgan MA et al.

Bioinformatics Advances, 2025

41209038 (PubMed )
Supplement: vbaf247_supplementary_data.pdf

Mutation order in acute myeloid leukemia identifies uncommon patterns of evolution and illuminates phenotypic heterogeneity.

Schwede M et al.

Leukemia, 2024

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

Infrequent Presentations of Chronic NPM1-Mutated Myeloid Neoplasms: Clinicopathological Features of Eight Cases from a Single Institution and Review of the Literature.

Castaño-Díez S et al.

Cancers, 2024

Integrating Clinical Cancer and PTM Proteomics Data Identifies a Mechanism of ACK1 Kinase Activation.

Balasooriya ER et al.

Molecular Cancer Research : Mcr, 2024

Cutaneous Manifestations of Myeloid Neoplasms Exhibit Broad and Divergent Morphologic and Immunophenotypic Features but Share Ancestral Clonal Mutations With Bone Marrow.

Sadigh S et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2024

Mutation order in acute myeloid leukemia identifies uncommon patterns of evolution and illuminates phenotypic heterogeneity.

Schwede M et al.

Research Square, 2023

The clinicopathologic significance of NPM1 mutation and ability to detect mutated NPM1 by immunohistochemistry in non-AML myeloid neoplasms.

Kaseb H et al.

Genes, Chromosomes & Cancer, 2023

Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.

Nannya Y et al.

Blood Advances, 2023

36989067 (PubMed )
Supplement: BLOODA_ADV-2022-009564-mmc2.xlsx › SuppTable2

Patient-Derived iPSCs Faithfully Represent the Genetic Diversity and Cellular Architecture of Human Acute Myeloid Leukemia.

Kotini AG et al.

Blood Cancer Discovery, 2023

37067914 (PubMed )
Supplement: bcd-22-0167_supplementary_tables_1-6_suppst1-st6.pdf

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.sd02.xlsx › snv_indel

Compartment-specific mutational landscape of clonal hematopoiesis.

Hartmann L et al.

Leukemia, 2022

36131041 (PubMed )
Supplement: 41375_2022_1700_MOESM1_ESM.pdf

Lenalidomide promotes the development of TP53-mutated therapy-related myeloid neoplasms.

Sperling AS et al.

Blood, 2022

35512188 (PubMed )
Supplement: BLOOD_BLD-2021-014956-mmc1.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

Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.

Umeda M et al.

Blood Cancer Discovery, 2022

35176137 (PubMed )
Supplement: bcd-21-0160_supplemental_tables_supp1-32.xlsx › Table_S11_cis-X

Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.

Liu T et al.

Nature Communications, 2022

35347147 (PubMed )
Supplement: 41467_2022_29336_MOESM8_ESM.xlsx › Sheet1

Next-generation sequencing reveals gene mutations landscape and clonal evolution in patients with acute myeloid leukemia.

Chen X et al.

Hematology (amsterdam, Netherlands), 2021

GATA2 deficiency syndrome: A decade of discovery.

Homan CC et al.

Human Mutation, 2021

34387894 (PubMed )
Supplement: HUMU-42-1399-s001.xlsx › Supp._Table_S1

Integrative Genomic Analysis of Pediatric Myeloid-Related Acute Leukemias Identifies Novel Subtypes and Prognostic Indicators.

Fornerod M et al.

Blood Cancer Discovery, 2021

34778799 (PubMed )
Supplement: bloodcandisc-2-586-s001.xlsx › Supplementary_Table_12

Incidence and prognosis of clonal hematopoiesis in patients with chronic idiopathic neutropenia.

Tsaknakis G et al.

Blood, 2021

Integrated genomic-metabolic classification of acute myeloid leukemia defines a subgroup with NPM1 and cohesin/DNA damage mutations.

Simonetti G et al.

Leukemia, 2021

34193978 (PubMed )
Supplement: 41375_2021_1318_MOESM7_ESM.xlsx › S12-Variants

In vivo inducible reverse genetics in patients' tumors to identify individual therapeutic targets.

Carlet M et al.

Nature Communications, 2021

34580292 (PubMed )
Supplement: 41467_2021_25963_MOESM2_ESM.pdf

Enhancer recruitment of transcription repressors RUNX1 and TLE3 by mis-expressed FOXC1 blocks differentiation in acute myeloid leukemia.

Simeoni F et al.

Cell Reports, 2021

34551306 (PubMed )
Supplement: mmc1.pdf

Leukemia stemness and co-occurring mutations drive resistance to IDH inhibitors in acute myeloid leukemia.

Wang F et al.

Nature Communications, 2021

33972549 (PubMed )
Supplement: 41467_2021_22874_MOESM4_ESM.xlsx › Supplementary_Data_3

Recurrent SETD2 mutation in NPM1-mutated acute myeloid leukemia.

Sun J et al.

Biomarker Research, 2020

Panel-based next-generation sequencing facilitates the characterization of childhood acute myeloid leukemia in clinical settings.

Ishida H et al.

Biomedical Reports, 2020

Clonal evolution of acute myeloid leukemia revealed by high-throughput single-cell genomics.

Morita K et al.

Nature Communications, 2020

Clinical utility of target capture-based panel sequencing in hematological malignancies: A multicenter feasibility study.

Yasuda T et al.

Cancer Science, 2020

32619037 (PubMed )
Supplement: CAS-111-3367-s004.xlsx › Sup.Table4

Novel Genetic Variations in Acute Myeloid Leukemia in Pakistani Population.

Shahid S et al.

Frontiers in Genetics, 2020

32655615 (PubMed )
Supplement: Table_3.XLSX › Sheet1

SET Domain Containing 2 Deficiency in Myelodysplastic Syndrome.

Li J et al.

Frontiers in Genetics, 2020

32849799 (PubMed )
Supplement: Presentation_1.pdf

Impact of mutational variant allele frequency on prognosis in myelodysplastic syndromes.

Jiang L et al.

American Journal of Cancer Research, 2020

Clonal evolution patterns in acute myeloid leukemia with NPM1 mutation.

Cocciardi S et al.

Nature Communications, 2019

[NPM1 High Mutant Allele Burden is an Adverse Prognostic Factor for AML Patients with Mutated NPM1].

Hou JX et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2019

Accurate and Sensitive Analysis of Minimal Residual Disease in Acute Myeloid Leukemia Using Deep Sequencing of Single Nucleotide Variations.

Delsing Malmberg E et al.

The Journal of Molecular Diagnostics : Jmd, 2019

Blastic plasmacytoid dendritic cell neoplasm arising from clonal hematopoiesis.

Suma S et al.

International Journal of Hematology, 2018

Circulating tumor DNA dynamically predicts response and/or relapse in patients with hematological malignancies.

Nakamura S et al.

International Journal of Hematology, 2018

Persistence of pre-leukemic clones during first remission and risk of relapse in acute myeloid leukemia.

Rothenberg-Thurley M et al.

Leukemia, 2018

29472724 (PubMed )
Supplement: 41375_2018_34_MOESM2_ESM.xlsx › Supplemental_Table_3

Pan-cancer genome and transcriptome analyses of 1,699 paediatric leukaemias and solid tumours.

Ma X et al.

Nature, 2018

29489755 (PubMed )
Supplement: NIHMS939556-supplement-Table_2-7.xlsx › TableS5
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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."