Varaico: Literature-Extracted Genetic Variants

Gene:SRSF2
Variant:p.P95_R103del0
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SRSF2

NM_001195427.2:p.P95_R103del0

Associated Papers

SRSF2 mutations drive daunorubicin resistance in acute myeloid leukemia via THBS1 stabilization.

Ye W et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2026

Proteomic subtypes enrich current acute myeloid leukemia nomenclature and reflect intrinsic pathogenesis alongside aging.

Cheng WY et al.

Blood, 2025

40829168 (PubMed )
Supplement: BLOOD_BLD-2024-027692-mmc5.xlsx › Sheet_1

Comprehensive analysis of clinical, pathological, and molecular features in chronic myelomonocytic leukemia: frequent ASXL1 and NRAS mutations and higher mutation burden in myeloproliferative CMML compared to myelodysplastic CMML.

Jeong Y

Leukemia & Lymphoma, 2025

39819262 (PubMed )
Supplement: supplement_1.pdf

A Comprehensive Guide to Achieving New York State Clinical Laboratory Evaluation Program Approval for Next-Generation Sequencing Assays.

Galbo PM et al.

The Journal of Molecular Diagnostics : Jmd, 2025

40158885 (PubMed )
Supplement: mmc6.xlsx › Sheet1

Low WT1 Expression Identifies a Subset of Acute Myeloid Leukemia with a Distinct Genotype.

Rondoni M et al.

Cancers, 2025

40227798 (PubMed )
Supplement: cancers-17-01213-s001.zip › cancers-3416916-supplementary.pdf

Emergence and Cytogenetic Clonal Evolution of Chromosome 7 Abnormalities in Myeloid Malignancies: Investigating the Role of Telomere Dysfunction.

Baldazzi C et al.

International Journal of Molecular Sciences, 2025

39940930 (PubMed )
Supplement: ijms-26-01162-s001.zip › Supplementary_Table_S1.xlsx › Supplementary_Table_1

VEXAS syndrome: is it more a matter of inflammation or hematopoietic clonality? A case series approach to diagnosis, therapeutic strategies and transplant management.

Costa A et al.

Annals of Hematology, 2025

Error-corrected ultradeep next-generation sequencing for detection of clonal haematopoiesis and haematological neoplasms - sensitivity, specificity and accuracy.

Tursky ML et al.

Plos One, 2025

40009600 (PubMed )
Supplement: pone.0318300.s003.pdf

Characterization of myeloproliferative neoplasms based on genetics only and prognostication of transformation to blast phase.

Walter W et al.

Leukemia, 2024

39341969 (PubMed )
Supplement: 41375_2024_2425_MOESM1_ESM.pdf

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_4_TS_SNV

Molecular genetic characterization of myeloid neoplasms with idic(X)(q13) and i(X)(q10).

Brunetti M et al.

Frontiers in Oncology, 2024

Mutational Profile Enables the Identification of a High-Risk Subgroup in Myelodysplastic Syndromes with Isolated Trisomy 8.

Toribio-Castelló S et al.

Cancers, 2023

37568638 (PubMed )
Supplement: cancers-15-03822-s001.zip › Supplementary_tables.xlsx › Table_S2

SPINK2 Protein Expression Is an Independent Adverse Prognostic Marker in AML and Is Potentially Implicated in the Regulation of Ferroptosis and Immune Response.

Pitts HA et al.

International Journal of Molecular Sciences, 2023

37298647 (PubMed )
Supplement: ijms-24-09696-s001.zip › Manuscript_SPINK2_supplementary_tables.xlsx › Table_S14

Contribution of rare and common coding variants to haematological malignancies in the UK biobank.

Zöller B et al.

Leukemia Research Reports, 2023

Defining the mutational profile of lower-risk myelodysplastic neoplasm patients with respect to disease progression using next-generation sequencing and pyrosequencing.

Adamska M et al.

Contemporary Oncology (poznan, Poland), 2023

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

Mutational Landscape of Patients Referred for Elevated Hemoglobin Level.

Bhai P et al.

Current Oncology (toronto, Ont.), 2022

36290845 (PubMed )
Supplement: curroncol-29-00568-s001.zip › Supplementary_File_I.xlsx › All_patients_Erythrocytosis

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

Therapy-related clonal cytopenia as a precursor to therapy-related myeloid neoplasms.

Shah MV et al.

Blood Cancer Journal, 2022

35803921 (PubMed )
Supplement: 41408_2022_703_MOESM2_ESM.pdf

Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.

Adema V et al.

Ebiomedicine, 2022

35617825 (PubMed )
Supplement: mmc3.xlsx › Suppl_Table_3

SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.

Medeiros JJF et al.

Bioinformatics (oxford, England), 2022

35150236 (PubMed )
Supplement: btac081_supplementary_data.zip › Table_S4.xlsx › Clinically_reported_Indels

Technological Advances: CEBPA and FLT3 Internal Tandem Duplication Mutations Can be Reliably Detected by Next Generation Sequencing.

Akabari R et al.

Genes, 2022

Direct comparison of circulating tumor DNA sequencing assays with targeted large gene panels.

Yu L et al.

Plos One, 2022

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 deletions in clonal hematopoiesis are driven by microhomology-mediated end joining.

Feldman T et al.

Nature Communications, 2021

The Importance of Targeted Next-Generation Sequencing Usage in Cytogenetically Normal Myeloid Malignancies.

Atli EI et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2021

Archival bone marrow smears are useful in targeted next-generation sequencing for diagnosing myeloid neoplasms.

Sadato D et al.

Plos One, 2021

Strategy for identification of a potential inherited leukemia predisposition in a 299 patient's cohort with tumor-only sequencing data.

Aguilera-Diaz A et al.

Leukemia Research, 2020

Monosomal karyotype and chromosome 17p loss or TP53 mutations in decitabine-treated patients with acute myeloid leukemia.

Becker H et al.

Annals of Hematology, 2020

32504186 (PubMed )
Supplement: 277_2020_4082_MOESM1_ESM.pdf

Thrombotic Risk Detection in Patients with Polycythemia Vera: The Predictive Role of DNMT3A/TET2/ASXL1 Mutations.

Segura-Díaz A et al.

Cancers, 2020

32290079 (PubMed )
Supplement: cancers-12-00934-s001.pdf

Rare and private spliceosomal gene mutations drive partial, complete, and dual phenocopies of hotspot alterations.

Pangallo J et al.

Blood, 2020

Clinical Validation of a Myeloid Next-Generation Sequencing Panel for Single-Nucleotide Variants, Insertions/Deletions, and Fusion Genes.

Izevbaye I et al.

The Journal of Molecular Diagnostics : Jmd, 2020

Unconventional Diagnosis Based on Somatic Findings through Germ Line Whole-Exome Sequencing.

Lopes JL et al.

Clinical Chemistry, 2020

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

Next-Generation Sequencing Improves Diagnosis, Prognosis and Clinical Management of Myeloid Neoplasms.

Carbonell D et al.

Cancers, 2019

31540291 (PubMed )
Supplement: cancers-11-01364-s001.zip › cancers-588721-SI.pdf

Implementation of an NGS-based sequencing and gene fusion panel for clinical screening of patients with suspected hematologic malignancies.

Levy MA et al.

European Journal of Haematology, 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 › TP_Mutations

Integrative genomic analysis of adult mixed phenotype acute leukemia delineates lineage associated molecular subtypes.

Takahashi K et al.

Nature Communications, 2018

29991687 (PubMed )
Supplement: 41467_2018_4924_MOESM1_ESM.pdf

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

Distinct age-associated molecular profiles in acute myeloid leukemia defined by comprehensive clinical genomic profiling.

Tarlock K et al.

Oncotarget, 2018

29899868 (PubMed )
Supplement: oncotarget-09-26417-s005.xlsx › genomics

Prognostic impact of gene mutations in myelodysplastic syndromes with ring sideroblasts.

Martín I et al.

Blood Cancer Journal, 2017

29235468 (PubMed )
Supplement: 41408_2017_16_MOESM1_ESM.pdf

Implications of mutational spectrum in myelodysplastic syndromes based on targeted next-generation sequencing.

Xu Y et al.

Oncotarget, 2017

29137279 (PubMed )
Supplement: oncotarget-08-82475-s003.xls › Sheet1

Targeted next generation sequencing and identification of risk factors in World Health Organization defined atypical chronic myeloid leukemia.

Patnaik MM et al.

American Journal of Hematology, 2017

Distinct evolution and dynamics of epigenetic and genetic heterogeneity in acute myeloid leukemia.

Li S et al.

Nature Medicine, 2016

27322744 (PubMed )
Supplement: NIHMS786454-supplement-7.xlsx › Sheet1

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

The clinical implication of SRSF2 mutation in patients with myelodysplastic syndrome and its stability during disease evolution.

Wu SJ et al.

Blood, 2012

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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."