Varaico: Literature-Extracted Genetic Variants

Gene:ASXL1
Variant:p.G643fs
Back to variants list

ASXL1

NM_015338.6:p.G643fs

Associated Papers

Unleashed condensation by recurrent mutations of an epigenetic regulator promotes cancer.

Song Y et al.

Biorxiv : the Preprint Server for Biology, 2026

Philadelphia chromosome-positive de novo myelodysplastic syndrome with the p230 BCR::ABL1 fusion gene: a case report.

Kawai H et al.

International Journal of Hematology, 2026

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

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

Switching anti-EGFR antibody re-sensitizes head and neck cancer patient following acquired resistance to cetuximab.

Khattri A et al.

Cancer Gene Therapy, 2024

A high proportion of germline variants in pediatric chronic myeloid leukemia.

Krumbholz M et al.

Molecular Cancer, 2024

39327604 (PubMed )
Supplement: 12943_2024_2109_MOESM2_ESM.xlsx › Suppl_Table_6

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

Initiating-clone analysis in patients with acute myeloid leukemia secondary to essential thrombocythemia.

Ushijima Y et al.

Scientific Reports, 2024

Human ASXL1-Mutant Hematopoiesis Is Driven by a Truncated Protein Associated with Aberrant Deubiquitination of H2AK119.

Köhnke T et al.

Blood Cancer Discovery, 2024

38359087 (PubMed )
Supplement: bcd-23-0235_supplementary_tables_1-5_suppst1.xlsx › Supplementary_Table_1

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

A new genomic framework to categorize pediatric acute myeloid leukemia.

Umeda M et al.

Nature Genetics, 2024

38212634 (PubMed )
Supplement: 41588_2023_1640_MOESM5_ESM.xlsx › Extended_data_Fig.1_source_data

Interaction between myelodysplasia-related gene mutations and ontogeny in acute myeloid leukemia.

McCarter JGW et al.

Blood Advances, 2023

37142255 (PubMed )
Supplement: BLOODA_ADV-2023-009675-mmc1.xlsx › supplemental_Table_2-Mutations

Epigenetic regulation by ASXL1 in myeloid malignancies.

Yang FC et al.

International Journal of Hematology, 2023

Impact of Clonal Architecture on Clinical Course and Prognosis in Patients With Myeloproliferative Neoplasms.

Luque Paz D et al.

Hemasphere, 2023

37153874 (PubMed )
Supplement: hs9-7-e885-s001.xlsx › Supplemental_Table_S2

ASXL1/2 mutations and myeloid malignancies.

Medina EA et al.

Journal of Hematology & Oncology, 2022

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_S12_SNV_indel

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

Preclinical evaluation of eltrombopag in a PDX model of myelodysplastic syndromes.

Schmitt N et al.

Leukemia, 2022

34172896 (PubMed )
Supplement: 41375_2021_1327_MOESM1_ESM.pdf

Mouse Models of Frequently Mutated Genes in Acute Myeloid Leukemia.

Mohanty S et al.

Cancers, 2021

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

Fan Y et al.

Cancer Cell International, 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

Asxl1 C-terminal mutation perturbs neutrophil differentiation in zebrafish.

Fang X et al.

Leukemia, 2021

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

Wang L et al.

Nature Cancer, 2021

Clonal hematopoiesis: Molecular basis and clinical relevance.

Kunimoto H et al.

Leukemia Research, 2020

ASXL1 mutation as a surrogate marker in acute myeloid leukemia with myelodysplasia-related changes and normal karyotype.

Prats-Martín C et al.

Cancer Medicine, 2020

Stage IV Colorectal Cancer Patients with High Risk Mutation Profiles Survived 16 Months Longer with Individualized Therapies.

Hendricks A et al.

Cancers, 2020

32046290 (PubMed )
Supplement: cancers-12-00393-s001.zip › cancers-698395-2.revision.supplementary_materials › SuppTables_S1-S7_.xlsx › S6_German_patients_mutations

Extreme intratumour heterogeneity and driver evolution in mismatch repair deficient gastro-oesophageal cancer.

von Loga K et al.

Nature Communications, 2020

31949146 (PubMed )
Supplement: 41467_2019_13915_MOESM5_ESM.xlsx › Tumor_4

SET Domain Containing 2 Deficiency in Myelodysplastic Syndrome.

Li J et al.

Frontiers in Genetics, 2020

32849799 (PubMed )
Supplement: Presentation_1.pdf

The functional mechanisms of mutations in myelodysplastic syndrome.

Nagata Y et al.

Leukemia, 2019

Response of high-risk MDS to azacitidine and lenalidomide is impacted by baseline and acquired mutations in a cluster of three inositide-specific genes.

Follo MY et al.

Leukemia, 2019

Aberrant histone modifications induced by mutant ASXL1 in myeloid neoplasms.

Asada S et al.

International Journal of Hematology, 2019

The role of ASXL1 in hematopoiesis and myeloid malignancies.

Asada S et al.

Cellular and Molecular Life Sciences : Cmls, 2019

Modeling ASXL1 mutation revealed impaired hematopoiesis caused by derepression of p16Ink4a through aberrant PRC1-mediated histone modification.

Uni M et al.

Leukemia, 2019

appreci8: a pipeline for precise variant calling integrating 8 tools.

Sandmann S et al.

Bioinformatics (oxford, England), 2018

29945233 (PubMed )
Supplement: bty518_supplementary_data_s1.xlsx › TN_Mutations_Filter_2

SMAD4 and NF1 mutations as potential biomarkers for poor prognosis to cetuximab-based therapy in Chinese metastatic colorectal cancer patients.

Mei Z et al.

Bmc Cancer, 2018

29703253 (PubMed )
Supplement: 12885_2018_4298_MOESM2_ESM.xlsx › Sheet1

Development and validation of a comprehensive genomic diagnostic tool for myeloid malignancies.

McKerrell T et al.

Blood, 2016

Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents.

Merlevede J et al.

Nature Communications, 2016

26908133 (PubMed )
Supplement: ncomms10767-s2.xls › Feuille1

Somatic mutations identify a subgroup of aplastic anemia patients who progress to myelodysplastic syndrome.

Kulasekararaj AG et al.

Blood, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."