Varaico: Literature-Extracted Genetic Variants

Gene:SF3B1
Variant:p.N626S
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SF3B1

NM_012433.4:p.N626S

Associated Papers

Clinical Validation of a Rapid Automated Lymphoma Next-Generation Sequencing Panel.

Krigstein M et al.

Annals of Laboratory Medicine, 2025

41277019 (PubMed )
Supplement: ALM3692_Supple1.xlsx › Variant_Calls

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 › MCV_cohort

Splicing factor 3b subunit 1 mutation patterns and prognostic implications in myelodysplastic syndromes, acute myeloid leukemia, and chronic lymphocytic leukemia: A retrospective study of 1691 cases.

Qiao C et al.

Cancer, 2025

Relationship between additional mutations at diagnosis and treatment response in patients with essential thrombocythemia.

Mosnier C et al.

Blood Advances, 2025

39820709 (PubMed )
Supplement: BLOODA_ADV-2024-014791-mmc1.pdf

Clinical Characteristics and Outcomes of Patients with Primary and Secondary Myelofibrosis According to the Genomic Classification Using Targeted Next-Generation Sequencing.

Garrote M et al.

Cancers, 2023

37568719 (PubMed )
Supplement: cancers-15-03904-s001.zip › cancers-2478235-supplementary.pdf

Impact of Clonal Architecture on Clinical Course and Prognosis in Patients With Myeloproliferative Neoplasms.

Luque Paz D et al.

Hemasphere, 2023

37153874 (PubMed )
Supplement: hs9-7-e885-s001.xlsx › Supplemental_Table_S2

SF3B1 mutations in primary and secondary myelofibrosis: Clinical, molecular and prognostic correlates.

Loscocco GG et al.

American Journal of Hematology, 2022

Clonal haematopoiesis as a risk factor for therapy-related myeloid neoplasms in patients with chronic lymphocytic leukaemia treated with chemo-(immuno)therapy.

Voso MT et al.

British Journal of Haematology, 2022

RUNX1 mutations contribute to the progression of MDS due to disruption of antitumor cellular defense: a study on patients with lower-risk MDS.

Kaisrlikova M et al.

Leukemia, 2022

35505182 (PubMed )
Supplement: 41375_2022_1584_MOESM2_ESM.xlsx › Mutations_214_LR-MDS

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

Comparative analysis of targeted next-generation sequencing panels for the detection of gene mutations in chronic lymphocytic leukemia: an ERIC multi-center study.

Sutton LA et al.

Haematologica, 2021

Prognostic and predictive role of gene mutations in chronic lymphocytic leukemia: results from the pivotal phase III study COMPLEMENT1.

Tausch E et al.

Haematologica, 2020

33054084 (PubMed )
Supplement: 2019.229161.TAUSCH_SUPPL.pdf

The K666N mutation in SF3B1 is associated with increased progression of MDS and distinct RNA splicing.

Dalton WB et al.

Blood Advances, 2020

The evolutionary landscape of chronic lymphocytic leukemia treated with ibrutinib targeted therapy.

Landau DA et al.

Nature Communications, 2017

29259203 (PubMed )
Supplement: 41467_2017_2329_MOESM4_ESM.xlsx › Supplementary_Data_2

Longitudinal copy number, whole exome and targeted deep sequencing of 'good risk' IGHV-mutated CLL patients with progressive disease.

Rose-Zerilli MJ et al.

Leukemia, 2016

26847028 (PubMed )
Supplement: leu201610x6.xls › 2015_RoseZerilli_WES_in_IGHVmut

Splice factor mutations and alternative splicing as drivers of hematopoietic malignancy.

Hahn CN et al.

Immunological Reviews, 2015

Clinical and genetic characteristics of congenital sideroblastic anemia: comparison with myelodysplastic syndrome with ring sideroblast (MDS-RS).

Ohba R et al.

Annals of Hematology, 2013

SF3B1 mutations in primary myelofibrosis: clinical, histopathology and genetic correlates among 155 patients.

Lasho TL et al.

Leukemia, 2012

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