Varaico: Literature-Extracted Genetic Variants

Gene:SRSF2
Variant:p.P95L
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SRSF2

NM_001195427.2:p.P95L

Associated Papers

BESTish: A Diffusion-Approximation Framework for Inferring Selection and Mutation in Clonal Hematopoiesis.

Wang RY et al.

Biorxiv : the Preprint Server for Biology, 2026

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

Ye W et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2026

A framework for the molecular identification of CHIP for clinical research.

Harraka P et al.

Hgg Advances, 2026

41566785 (PubMed )
Supplement: mmc1.pdf

Optical Genome Mapping Enhances Structural Variant Detection and Refines Risk Stratification in Chronic Lymphocytic Leukemia.

Chakraborty SR et al.

Genes, 2026

FBXO11 suppression rewires an NPM1-centered interactome influencing the progression of myelodysplastic syndrome.

Niederkorn M et al.

The Journal of Clinical Investigation, 2026

41542766 (PubMed )
Supplement: jci-136-193636-s047.xlsx › Patient_samples

Clonal hematopoiesis associates with prevalent and incident cardiometabolic disease in a cardiac catheterization cohort.

Regan JA et al.

Plos One, 2026

41666166 (PubMed )
Supplement: pone.0339491.s009.xlsx › S2_Table

Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations.

Colin-Leitzinger C et al.

Human Genomics, 2025

41331781 (PubMed )
Supplement: 40246_2025_847_MOESM1_ESM.pdf

Evaluation of Long-Read Genome Sequencing for Genomic Profiling of Myeloid Cancers.

Abel HJ et al.

The Journal of Molecular Diagnostics : Jmd, 2025

41016628 (PubMed )
Supplement: mmc14.xlsx › Sheet1

Clonal hematopoiesis in apparent treatment-resistant hypertension, insights from multiple medical centers and community-based cohorts.

Lv C et al.

Nature Aging, 2025

41286462 (PubMed )
Supplement: 43587_2025_1017_MOESM4_ESM.xlsx › Sheet1

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

Palisaded Neutrophilic and Granulomatous Dermatitis Associated With ASXL1 -Mutated Chronic Myelomonocytic Leukemia: A Case Report and Literature Review.

Elsharawi I et al.

The American Journal of Dermatopathology, 2025

Landscape and clinicopathologic features of RAS pathway mutations in chronic myelomonocytic leukemia.

Montalban-Bravo G et al.

Blood Advances, 2025

Sensitivity to ATR-CHK1 pathway inhibition in AML/MDS is enhanced by SRSF2 mutations and reduced by RUNX1 loss.

Eldfors S et al.

Biorxiv : the Preprint Server for Biology, 2025

Long-term outcomes in FLT3-mutated acute myeloid leukemia after frontline hypomethylating agent, venetoclax and a FLT3 inhibitor.

Short NJ et al.

Haematologica, 2025

Induced pluripotent stem cell-based modelling of disease evolution in myeloid leukemia: MDS to AML.

Boultwood J

Advances in Biological Regulation, 2025

Detection of minimal residual disease in circulating cell-free DNA in acute myeloid leukemia.

Sommer C et al.

Scientific Reports, 2025

40987801 (PubMed )
Supplement: 41598_2025_20589_MOESM1_ESM.pdf

Clonal haematopoiesis associates with distinct cytometric changes of red blood cells and platelets.

Salzbrunn JB et al.

British Journal of Haematology, 2025

40754673 (PubMed )
Supplement: BJH-207-1085-s002.xlsx › RDW_cohort

Telomere attrition becomes an instrument for clonal selection in aging hematopoiesis and leukemogenesis.

McLoughlin MA et al.

Nature Genetics, 2025

40877435 (PubMed )
Supplement: 41588_2025_2296_MOESM4_ESM.xlsx › SupplementaryTable12

Myeloid sarcoma shows a high frequency of mutations activating the MAPK/ERK pathway and association with clonal hematopoiesis.

Nann D et al.

The Journal of Pathology. Clinical Research, 2025

40906433 (PubMed )
Supplement: CJP2-11-e70044-s001.pdf

Comparative outcome and prognostic factor analysis among MDS/AML patients with TP53 mutations, snps, and wild type.

Yang X et al.

Human Genomics, 2025

40877983 (PubMed )
Supplement: 40246_2025_792_MOESM2_ESM.xlsx › Table_S4

KRAS may facilitate transformation of chronic lymphocytic leukemia to histiocytic sarcoma with indeterminate dendritic cell features.

Hassan F et al.

American Journal of Clinical Pathology, 2025

MutationAssessor in cBioPortal.

Su Y et al.

Biorxiv : the Preprint Server for Biology, 2025

40832239 (PubMed )
Supplement: media-1.pdf

Integrating Molecular Alterations with Immunophenotype and Clinical Characteristics in Myelodysplastic Syndromes: A Single-Center Study.

Majcherek M et al.

International Journal of Molecular Sciences, 2025

40806511 (PubMed )
Supplement: ijms-26-07382-s001.zip › ijms-3714525-supplementary.pdf

Distinct characteristics of lymphoid and myeloid clonal hematopoiesis in World Trade Center first responders.

Esai Selvan M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40778119 (PubMed )
Supplement: media-2.pdf

Cell-autonomous dysregulation of interferon signaling drives clonal expansion of SRSF2-mutant MDS stem/progenitor cells.

Takashima K et al.

Blood, 2025

Bayesian inference of fitness landscapes via tree-structured branching processes.

Luo XG et al.

Bioinformatics (oxford, England), 2025

40662787 (PubMed )
Supplement: btaf193_supplementary_data.zip › btaf193_Supplementary_Data › Luo.228.sup.1.pdf

Clonal Hematopoiesis of Indeterminate Potential Is Associated With Incident Abdominal Aortic Aneurysm.

Tan Y et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2025

40336477 (PubMed )
Supplement: atvb-2024-322630-s01.pdf

Genetic characteristics of blastic plasmacytoid dendritic cell neoplasm: A single institution experience.

Fei F et al.

Oncotarget, 2025

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: mmc8.xlsx › Sheet1

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

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 › S2

Heterozygous germline TET2 loss-of-function variants associated with an ALPS-like phenotype.

Harrop S et al.

British Journal of Haematology, 2025

Germline DNA Repair Gene Mutations and Clonal Hematopoiesis (CH) in 24,849 Patients with BRCA-Associated Cancers.

Marshall CH et al.

Cancers, 2025

40361359 (PubMed )
Supplement: cancers-17-01432-s001.zip › cancers-3524691-supplementary.xlsx › Sheet1

Persistent postremission clonal hematopoiesis shapes the relapse trajectories of acute myeloid leukemia.

Chow RD et al.

Blood Advances, 2025

39938015 (PubMed )
Supplement: BLOODA_ADV-2024-015149-mmc2.xlsx › S2

Association Between B-Cell Marker Expression and RUNX1 Lesions in Acute Myeloid Leukemia, Beyond RUNX1::RUNX1T1 Fusion: Diagnostic Pitfalls with Mixed-Phenotype Acute Leukemia-B/Myeloid.

George GV et al.

Cancers, 2025

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

Peripheral blood somatic mosaicism and clonal hematopoiesis across ancestry backgrounds.

Colin-Leitzinger C et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40166537 (PubMed )
Supplement: media-1.pdf

Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis.

Wen S et al.

Nature Genetics, 2025

39948438 (PubMed )
Supplement: 41588_2025_2085_MOESM4_ESM.xlsx › ST_4

Single-cell DNA sequencing reveals pervasive positive selection throughout preleukemic evolution.

Poon G et al.

Cell Genomics, 2025

Clonal hematopoiesis in patients with autoimmune thrombocytopenia: an international multicenter study.

Fattizzo B et al.

Blood Advances, 2025

39536292 (PubMed )
Supplement: BLOODA_ADV-2024-014984-mmc1.pdf
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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."