Varaico: Literature-Extracted Genetic Variants

Gene:ZRSR2
Variant:p.R295*
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ZRSR2

NM_005089.4:p.R295*

Associated Papers

Association of ASXL1 and RUNX1 Variants with Splenomegaly in Myelodysplastic Syndromes Based on Next-generation Sequencing and Computed Tomography Data: A Retrospective Study.

Huh Y et al.

Annals of Laboratory Medicine, 2026

40619576 (PubMed )
Supplement: alm-46-1-104-supple1.xlsx › TableS3

ZRSR2 loss causes aberrant splicing in JAK2V617F-driven myeloproliferative neoplasm but is not sufficient to drive disease progression.

Zhang R et al.

Hemasphere, 2025

40963845 (PubMed )
Supplement: HEM3-9-e70225-s009.pdf

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

Fei F et al.

Oncotarget, 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

Characterisation and prognostic impact Of ZRSR2 mutations in myeloid neoplasms.

Yacout M et al.

Leukemia, 2024

BRAF V600E-Mutant Acute Myeloid Leukemia: A Case Series and Literature Review of a Rare Entity.

George GV et al.

Genes, 2024

Long-term longitudinal analysis of 4,187 participants reveals new insights into determinants of incident clonal hematopoiesis.

Uddin MM et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37732181 (PubMed )
Supplement: media-2.xlsx › Table_S3

Sex-Biased ZRSR2 Mutations in Myeloid Malignancies Impair Plasmacytoid Dendritic Cell Activation and Apoptosis.

Togami K et al.

Cancer Discovery, 2022

Mutational spectrum and prognosis in Chinese patients with prefibrotic primary myelofibrosis.

Cheng CK et al.

Ejhaem, 2022

35846205 (PubMed )
Supplement: JHA2-3-184-s002.xlsx › All_MPN_cases

Splicing factor mutations in hematologic malignancies.

Chen S et al.

Blood, 2021

Diagnosis and prognosis are supported by integrated assessment of next-generation sequencing in chronic myeloid malignancies. A real-life study.

Vantyghem S et al.

Haematologica, 2021

Aberrant splicing of U12-type introns is the hallmark of ZRSR2 mutant myelodysplastic syndrome.

Madan V et al.

Nature Communications, 2015

Splicing factor mutations and cancer.

Yoshida K et al.

Wiley Interdisciplinary Reviews. Rna, 0

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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."