Varaico: Literature-Extracted Genetic Variants

Gene:ASXL1
Variant:p.G652S
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ASXL1

NM_015338.6:p.G652S

Associated Papers

Identification of potentially deleterious mutations in gastric cancer using patient-derived xenograft models.

Kong L et al.

Frontiers in Genetics, 2025

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_MOESM15_ESM.xlsx › S15

Frequency and prognostic influence of ASXL1 mutations and its potential association with BCR-ABL1 transcript type and smoke in chronic myeloid leukemia patients.

Rafiq Mohammed A et al.

Gene, 2023

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

Understanding WT1 Alterations and Expression Profiles in Hematological Malignancies.

Niktoreh N et al.

Cancers, 2023

37444601 (PubMed )
Supplement: cancers-15-03491-s001.zip › cancers-2411712-supplementary.pdf

Molecular Genetics of Thrombotic Myeloproliferative Neoplasms: Implications in Precision Oncology.

Chia YC et al.

Diagnostics (basel, Switzerland), 2023

The clinical relevance of broad mutational screening of myeloproliferative neoplasms at diagnosis.

Pettersson H et al.

Frontiers in Oncology, 2023

37637067 (PubMed )
Supplement: Table_1.xlsx › Supplementary_table_1

Responses to the Tepotinib in Gastric Cancers with MET Amplification or MET Exon 14 Skipping Mutations and High Expression of Both PD-L1 and CD44.

Sohn SH et al.

Cancers, 2022

35884507 (PubMed )
Supplement: cancers-14-03444-s001.zip › supplementary_material_Table_S1.xlsx › Kato_III

Mutant PPM1D- and TP53-Driven Hematopoiesis Populates the Hematopoietic Compartment in Response to Peptide Receptor Radionuclide Therapy.

Singh A et al.

Jco Precision Oncology, 2022

Genetic alterations in patients with chronic leucocytosis and persistent thrombocytosis.

Mori N et al.

Journal of Genetics, 2022

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

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

Fan Y et al.

Cancer Cell International, 2021

HOXBLINC long non-coding RNA activation promotes leukemogenesis in NPM1-mutant acute myeloid leukemia.

Zhu G et al.

Nature Communications, 2021

33782403 (PubMed )
Supplement: 41467_2021_22095_MOESM1_ESM.pdf

Alignment-free method for functional annotation of amino acid substitutions: Application on epigenetic factors involved in hematologic malignancies.

Gemović B et al.

Plos One, 2021

33395407 (PubMed )
Supplement: pone.0244948.s001.pdf

Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Feng Y et al.

Frontiers in Cell and Developmental Biology, 2021

34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result

Integration of intra-sample contextual error modeling for improved detection of somatic mutations from deep sequencing.

Abelson S et al.

Science Advances, 2020

33298453 (PubMed )
Supplement: abe3722_Table_S3.xlsx › tab1

Frequency and characteristics of the JAK2 V617F mutation in 23 cerebral venous sinus thrombosis patients with thrombocytosis.

Ma Q

The Journal of International Medical Research, 2020

Gene mutation profile and risk stratification in AML1‑ETO‑positive acute myeloid leukemia based on next‑generation sequencing.

Yu G et al.

Oncology Reports, 2019

31638252 (PubMed )
Supplement: Supplementary_Data.pdf

A tailored molecular profiling programme for children with cancer to identify clinically actionable genetic alterations.

George SL et al.

European Journal of Cancer (oxford, England : 1990), 2019

31543384 (PubMed )
Supplement: mmc2.xlsx › FFPE_variants-V1_vs_V2

Genetic modification of primary human B cells to model high-grade lymphoma.

Caeser R et al.

Nature Communications, 2019

31586074 (PubMed )
Supplement: 41467_2019_12494_MOESM6_ESM.xlsx › Merged_Variants_MUT_CAV

Clinicopathological characteristics and molecular abnormalities of primary grade 2 neuroendocrine tumors of the cervix.

Zhu R et al.

Diagnostic Pathology, 2019

Comprehensive characterization of the mutational landscape in multiple myeloma cell lines reveals potential drivers and pathways associated with tumor progression and drug resistance.

Vikova V et al.

Theranostics, 2019

30809292 (PubMed )
Supplement: thnov09p0540s1.pdf

Identification of driver and subclonal mutations in ASXL1 and IDH1/IDH2 genes in an Argentine series of patients with myelofibrosis.

Scheps K et al.

International Journal of Laboratory Hematology, 2018

[Targeted sequencing analysis of hyper-eosinophilic syndrome and chronic eosinophilic leukemia].

Qu SQ et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2018

Mutation profiling by targeted sequencing of "triple-negative" essential thrombocythaemia patients.

Ju M et al.

British Journal of Haematology, 2018

Molecular characteristic of acute leukemias with t(16;21)/FUS-ERG.

Zerkalenkova E et al.

Annals of Hematology, 2018

ASXL1 mutations in Chinese patients with essential thrombocythemia.

Nie YB et al.

Experimental and Therapeutic Medicine, 2018

Prognostic significance of ASXL1 mutation types and allele burden in myelofibrosis.

Tefferi A et al.

Leukemia, 2018

ASXL1 single nucleotide polymorphisms rs62206933, rs117901891, and rs74638057 identify a subgroup of acquired aplastic anemia in Chinese Han patients.

Huang J et al.

International Journal of Laboratory Hematology, 2015

Prognostic significance of ASXL1, JAK2V617F mutations and JAK2V617F allele burden in Philadelphia-negative myeloproliferative neoplasms.

Yonal-Hindilerden I et al.

Journal of Blood Medicine, 2015

Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation.

West RR et al.

Haematologica, 2014

Feature-based classification of amino acid substitutions outside conserved functional protein domains.

Gemovic B et al.

Thescientificworldjournal, 2013

24348198 (PubMed )
Supplement: 948617.f1.pdf

Disruption of the ASXL1 gene is frequent in primary, post-essential thrombocytosis and post-polycythemia vera myelofibrosis, but not essential thrombocytosis or polycythemia vera: analysis of molecular genetics and clinical phenotypes.

Stein BL et al.

Haematologica, 2011

Distinct clinical and biological features of de novo acute myeloid leukemia with additional sex comb-like 1 (ASXL1) mutations.

Chou WC et al.

Blood, 2010

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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."