Varaico: Literature-Extracted Genetic Variants

Gene:SRSF2
Variant:p.P95H
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SRSF2

NM_001195427.2:p.P95H

Associated Papers

Mutant SRSF2-associated impaired erythropoiesis is defined by increased mTORC1 signaling due to FYN missplicing.

Jutzi JS et al.

Leukemia, 2026

Pharmacological perturbation of splicing elicits SMG1 reduction: Implications for cancer therapy.

Barainka M et al.

Iscience, 2026

Quantification of plasma mutant calreticulin for diagnosis and therapeutic response assessment of peginterferon-α in myeloproliferative neoplasms: A proof-of-concept study.

Tian J et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2026

Vulnerability of SRSF2-mutated chronic myelomonocytic leukemia to perturbation of the cGAS-STING pathway.

Chen Y et al.

Blood Advances, 2026

The Role and Impact of Non-driver Gene Mutations in Myelofibrosis.

Boldrini V et al.

Current Hematologic Malignancy Reports, 2026

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

Wang RY et al.

Biorxiv : the Preprint Server for Biology, 2026

B-cell acute lymphoblastic leukemia following myelodysplastic syndromes: a case report and literature review.

Ding H et al.

Journal of Hematopathology, 2026

Loss of Y chromosome in Alzheimer's patients co-occurs with somatic mutations beyond CHIP drivers.

Rychlicka-Buniowska E et al.

Life Science Alliance, 2026

41371958 (PubMed )
Supplement: LSA-2025-03533_TableS5.xlsx › Table_S5._Detected_CH_variants

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

Ye W et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2026

Splicing-driven post-translational dysregulation: a new frontier for precision cancer medicine and immunotherapy.

Alatawi S

Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2026

PRDM16 expression is an independent prognostic factor in AML with the double-mutant NPM1/FLT3-ITD genotype.

Stasik S et al.

Annals of Hematology, 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

PU.1-Activated Genomic Regions Define Low-risk MDS Subsets Characterized by Immune Dysregulation and Disease Progression.

Vallelonga V et al.

Blood, 2026

A Yeast-Based High-Throughput Screening Platform for the Discovery of Novel pre-mRNA Splicing Modulators.

Love SL et al.

Acs Chemical Biology, 2026

Targeting EZH2 Oncogenic Splicing: Decoding the Regulatory Network and Antisense Correction.

Islam MR et al.

Biorxiv : the Preprint Server for Biology, 2026

Epidemiological survey of potential familial myelodysplastic syndromes/acute myeloid leukemia in Hawaii.

Takaoka K et al.

International Journal of Hematology, 2026

Acute Myeloid Leukemia With a Non-Canonical FLT3 V491L Mutation: A Case Report With Ex Vivo FLT3 Inhibitors Sensitivity Testing.

Pospiech M et al.

Journal of Medical Cases, 2026

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

A novel GATA1 variant linking germline and somatic myelodysplastic syndrome in two patients.

Revilla N et al.

Haematologica, 2025

Clonal architecture of FLT3-ITD and acquired 13q uniparental disomy define prognostic heterogeneity and therapeutic vulnerabilities in acute myeloid leukemia.

Lai A et al.

Neoplasia (new York, N.y.), 2025

41411742 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Prpf4 sequentially regulates the expansion and maturation of erythrocyte through distinct mechanisms.

Deng Z et al.

Cell Death Discovery, 2025

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

Identification of t(X;1)(q28;q21) generating a novel GATAD2B::MTCP1 gene fusion in CMML and its persistence during progression to AML.

Liu YZ et al.

Hematology (amsterdam, Netherlands), 2025

Multipurpose RNA maturation factors dysregulate multiple mRNA processing steps simultaneously and provide new therapeutic opportunities.

Paira S et al.

Rna Biology, 2025

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

Clinical experience of using integrated whole genome and transcriptome sequencing as a framework for pediatric and adolescent acute myeloid leukemia diagnosis and risk assessment.

Voss RK et al.

Leukemia, 2025

41057686 (PubMed )
Supplement: 41375_2025_2774_MOESM2_ESM.xlsx › S3_-_SNVs__small_INDELS

asxl1 C-terminal truncation and SRSF2 mutation drive leukemogenesis via immune reprogramming.

Tu L et al.

Leukemia, 2025

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

Alternative Splicing: Molecular Mechanisms, Biological Functions, Diseases, and Potential Therapeutic Targets.

Zhu ZM et al.

Medcomm, 2025

Alternative splicing: from tumorigenesis to neoantigen-mediated cancer immunotherapy.

Lv YH et al.

Biomarker Research, 2025

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

Novel and emerging therapeutic strategies for clonal haematopoiesis.

Hosseini M et al.

Haematologica, 2025

Oncogenic DEAD-box ATPase DDX41 establishes transcript ensembles via CLK3-dependent and -independent mechanisms.

Kim JA et al.

Nature Communications, 2025

Generative Design of Cell Type-Specific RNA Splicing Elements for Programmable Gene Regulation.

Chen XD et al.

Biorxiv : the Preprint Server for Biology, 2025

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

Somatic mutation and selection at population scale.

Lawson ARJ et al.

Nature, 2025

41062696 (PubMed )
Supplement: 41586_2025_9584_MOESM1_ESM.pdf

A Yeast-Based High-Throughput Screening Platform for the Discovery of Novel pre-mRNA Splicing Modulators.

Love SL et al.

Biorxiv : the Preprint Server for Biology, 2025

Splicing Factor Mutations in Chronic Myelomonocytic Leukemia: Biological Consequences and Therapeutic Implications.

Steinauer N et al.

Current Hematologic Malignancy Reports, 2025

Clinico-hematopathologic and Genetic Characteristics of Korean Patients with Blastic Plasmacytoid Dendritic Cell Neoplasm: A Retrospective Single-center Cohort Study.

Kim J et al.

Annals of Laboratory Medicine, 2025

41093602 (PubMed )
Supplement: ALM3679_Supple0.xlsx › S6

A Unifying Mechanism for Shared Splicing Aberrations in Splicing Factor Mutant Cancers.

Boddu PC et al.

Biorxiv : the Preprint Server for Biology, 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

The role of ASXL1, SRSF2, and EZH2 mutations in chromatin dysregulation of myelodysplastic neoplasia and acute myeloid leukemia.

Yu H et al.

Leukemia, 2025

Uncommon Evolution From Acute Myeloid Leukaemia to JAK2-Mutated Myeloproliferative Neoplasm: Evidence of Clonal Persistence and Divergence From TET2/SRSF2-Mutated Haematopoietic Progenitors.

Turingan MA et al.

Ejhaem, 2025

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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."