Varaico: Literature-Extracted Genetic Variants

Gene:ASXL1
Variant:p.G642fs
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ASXL1

NM_015338.6:p.G642fs

Associated Papers

CRISPR-engineered human GATA2 deficiency model uncovers mitotic dysfunction and premature aging in HSPCs, impairing hematopoietic fitness.

Romero-Moya D et al.

Leukemia, 2025

40954215 (PubMed )
Supplement: 41375_2025_2771_MOESM2_ESM.pdf

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

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 › S3

Guanine nucleotide biosynthesis blockade impairs MLL complex formation and sensitizes leukemias to menin inhibition.

Shi X et al.

Nature Communications, 2025

40102405 (PubMed )
Supplement: 41467_2025_57544_MOESM5_ESM.xlsx › Data_S3

Genomic characterization of AML with aberrations of chromosome 7: a multinational cohort of 519 patients.

Halik A et al.

Journal of Hematology & Oncology, 2024

39160538 (PubMed )
Supplement: 13045_2024_1590_MOESM1_ESM.xlsx › Suppl._Dataset_3_WES_SNV

The E592K variant of SF3B1 creates unique RNA missplicing and associates with high-risk MDS without ring sideroblasts.

Choi IY et al.

Blood Advances, 2024

38759096 (PubMed )
Supplement: BLOODA_ADV-2023-011260-mmc1.pdf

Selective advantage of mutant stem cells in human clonal hematopoiesis is associated with attenuated response to inflammation and aging.

Jakobsen NA et al.

Cell Stem Cell, 2024

38917807 (PubMed )
Supplement: mmc3.xlsx › Table_S2b

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

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

Whole-Exome Sequencing of a Case of Squamoid Eccrine Ductal Carcinoma Reveal Similarities With Cutaneous Squamous Cell Carcinoma.

Grube VL et al.

The American Journal of Dermatopathology, 2023

Adult Low-Hypodiploid Acute Lymphoblastic Leukemia Emerges from Preleukemic TP53-Mutant Clonal Hematopoiesis.

Kim R et al.

Blood Cancer Discovery, 2023

36630200 (PubMed )
Supplement: bcd-22-0154_supplementary_tables_s1-s11_suppst1-st11.xlsx › TableS2

Myelodysplastic Syndrome associated TET2 mutations affect NK cell function and genome methylation.

Boy M et al.

Nature Communications, 2023

36737440 (PubMed )
Supplement: 41467_2023_36193_MOESM1_ESM.pdf

Clinical and Molecular Determinants of Clonal Evolution in Aplastic Anemia and Paroxysmal Nocturnal Hemoglobinuria.

Gurnari C et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 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.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

One novel ACOT7-NPHP4 fusion gene identified in one patient with acute lymphoblastic leukemia: a case report.

Zong X et al.

Bmc Medical Genomics, 2022

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

[Clinical features and survival analysis in non-M(3) acute myeloid leukemia patients with ASXL1 gene mutation].

Jia WB et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2022

The characteristics and clinical prognosis analysis of ASXL1 mutations in Chinese adult patients with primary cytogenetically normal acute myeloid leukemia by next-generation sequencing.

Xu J et al.

Leukemia & Lymphoma, 2022

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

Acute myeloid leukemia with myelodysplasia-related changes and blasts of the mixed T/myeloid phenotype: a case report.

Sheng XF et al.

The Journal of International Medical Research, 2022

Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis.

González-López O et al.

Cancers, 2022

Acquired somatic variants in inherited myeloid malignancies.

Armes H et al.

Leukemia, 2022

35140362 (PubMed )
Supplement: 41375_2022_1515_MOESM4_ESM.xlsx › Sheet1

Epigenetic modifier gene mutations in chronic myeloid leukemia (CML) at diagnosis are associated with risk of relapse upon treatment discontinuation.

Adnan Awad S et al.

Blood Cancer Journal, 2022

New insights on familial colorectal cancer type X syndrome.

Garcia FAO et al.

Scientific Reports, 2022

Sex-Biased ZRSR2 Mutations in Myeloid Malignancies Impair Plasmacytoid Dendritic Cell Activation and Apoptosis.

Togami K et al.

Cancer Discovery, 2022

34615655 (PubMed )
Supplement: cd-20-1513_supplementary_tables_suppst1.xlsx › Supplementary_Table_1

Identification of a novel HOOK3-FGFR1 fusion gene involved in activation of the NF-kappaB pathway.

Zhang X et al.

Cancer Cell International, 2022

35081975 (PubMed )
Supplement: 12935_2022_2451_MOESM1_ESM.xlsx › Table_S3

The Dawn of next generation DNA sequencing in myelodysplastic syndromes- experience from Pakistan.

Anwar N et al.

Bmc Genomics, 2021

34915860 (PubMed )
Supplement: 12864_2021_8221_MOESM2_ESM.xlsx › Sheet1

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

Risk factors affect accurate prognosis in ASXL1-mutated acute myeloid leukemia.

Fan Y et al.

Cancer Cell International, 2021

Tumor fraction-guided cell-free DNA profiling in metastatic solid tumor patients.

Tsui DWY et al.

Genome Medicine, 2021

34059130 (PubMed )
Supplement: 13073_2021_898_MOESM3_ESM.xlsx › SuppTable1

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

Epigenetic targeted therapy of stabilized BAP1 in ASXL1 gain-of-function mutated leukemia.

Wang L et al.

Nature Cancer, 2021

The acquisition of molecular drivers in pediatric therapy-related myeloid neoplasms.

Schwartz JR et al.

Nature Communications, 2021

33579957 (PubMed )
Supplement: 41467_2021_21255_MOESM24_ESM.xlsx › Sup._Data_21_Serial_Sequencing

Cohesin mutations alter DNA damage repair and chromatin structure and create therapeutic vulnerabilities in MDS/AML.

Tothova Z et al.

Jci Insight, 2021

Genomic alterations in patients with somatic loss of the Y chromosome as the sole cytogenetic finding in bone marrow cells.

Ouseph MM et al.

Haematologica, 2021

Clonal hematopoiesis in adult pure red cell aplasia.

Fujishima N et al.

Scientific Reports, 2021

Spectrum of histiocytic neoplasms associated with diverse haematological malignancies bearing the same oncogenic mutation.

Kemps PG et al.

The Journal of Pathology. Clinical Research, 2021

32852896 (PubMed )
Supplement: CJP2-7-10-s001.pdf

Enrichment of Double RUNX1 Mutations in Acute Leukemias of Ambiguous Lineage.

Merati G et al.

Frontiers in Oncology, 2021

34540694 (PubMed )
Supplement: DataSheet_1.pdf

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

Morita K et al.

Nature Communications, 2020

33087716 (PubMed )
Supplement: 41467_2020_19119_MOESM1_ESM.pdf

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
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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."