Varaico: Literature-Extracted Genetic Variants

Gene:SF3B1
Variant:p.R625G
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SF3B1

NM_012433.4:p.R625G

Associated Papers

SF3B1 mutations in spliceosome-driven tumorigenesis: From splicing dysregulation to signaling network rewiring and therapeutic targeting.

Yang T et al.

Biochimica Et Biophysica Acta. Reviews on Cancer, 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

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

Distinct and convergent effects of SF3B1 mutations in human breast cancer.

Bergman RE et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

41055979 (PubMed )
Supplement: pnas.2505374122.sapp.pdf

Molecular determinants of survival in metastatic uveal melanoma: The impact of SF3B1 mutations.

Del Carpio LP et al.

European Journal of Cancer (oxford, England : 1990), 2025

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

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

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

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

Clonal Hematopoiesis Associates with Prevalent and Incident Cardiometabolic Disease in High-Risk Individuals.

Regan JA et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

39867361 (PubMed )
Supplement: media-1.xlsx › Supplemental_Table_2

Colchicine prevents accelerated atherosclerosis in TET2-mutant clonal haematopoiesis.

Zuriaga MA et al.

European Heart Journal, 2024

39212933 (PubMed )
Supplement: ehae546_supplementary_data.pdf

The non-canonical BAF chromatin remodeling complex is a novel target of spliceosome dysregulation in SF3B1-mutated chronic lymphocytic leukemia.

Hägerstrand D et al.

Leukemia, 2024

Genetic Characteristics of Cutaneous, Acral, and Mucosal Melanoma in Japan.

Hida T et al.

Cancer Medicine, 2024

39564955 (PubMed )
Supplement: CAM4-13-e70360-s002.xlsx › Sheet1

The Impact of Spliceosome Inhibition in SF3B1-Mutated Uveal Melanoma.

Nguyen JQN et al.

Investigative Ophthalmology & Visual Science, 2024

Unidirectional association of clonal hematopoiesis with atherosclerosis development.

Díez-Díez M et al.

Nature Medicine, 2024

39215150 (PubMed )
Supplement: 41591_2024_3213_MOESM1_ESM.pdf

Identification of Clonal Hematopoiesis Driver Mutations through In Silico Saturation Mutagenesis.

Demajo S et al.

Cancer Discovery, 2024

38722595 (PubMed )
Supplement: cd-23-1416_supplementary_table_s1_suppst1.xlsx › Sheet1

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

The E592K variant of SF3B1 creates unique RNA missplicing and associates with high-risk MDS without ring sideroblasts.

Choi IY et al.

Blood Advances, 2024

38759096 (PubMed )
Supplement: BLOODA_ADV-2023-011260-mmc1.pdf

Association Between Clonal Hematopoiesis and Left Ventricular Reverse Remodeling in Nonischemic Dilated Cardiomyopathy.

Inoue S et al.

Jacc. Basic to Translational Science, 2024

39297129 (PubMed )
Supplement: mmc1.pdf

Predicted deleterious variants in the human genome relevant to gene therapy with adeno-associated virus vectors.

Rostami MR et al.

Molecular Therapy. Methods & Clinical Development, 2023

38089635 (PubMed )
Supplement: mmc2.xlsx › Supplemental_Table_III

Next-generation sequencing of uveal melanoma with clinical and histological correlations: Prognostic value of new mutations in the PI3K/AKT/mTOR pathway.

Pérez-Pérez M et al.

Clinical & Experimental Ophthalmology, 2023

Targeting aberrant splicing.

Dart A

Nature Reviews. Cancer, 2023

Rare variant associations with plasma protein levels in the UK Biobank.

Dhindsa RS et al.

Nature, 2023

37794183 (PubMed )
Supplement: 41586_2023_6547_MOESM4_ESM.zip › 2022-09-14560C-s4 › 2022-09-14560C-Supp_table_20_-_CH_qualifying_variant_list.xlsx › CH_qualifying_variants

Genetic modification of inflammation- and clonal hematopoiesis-associated cardiovascular risk.

Yu Z et al.

The Journal of Clinical Investigation, 2023

37498674 (PubMed )
Supplement: jci-133-168597-s140.pdf

SF3B1 hotspot mutations confer sensitivity to PARP inhibition by eliciting a defective replication stress response.

Bland P et al.

Nature Genetics, 2023

Clonal hematopoiesis is associated with protection from Alzheimer's disease.

Bouzid H et al.

Nature Medicine, 2023

37322115 (PubMed )
Supplement: 41591_2023_2397_MOESM3_ESM.xlsx › Supplementary_Table_1

Therapeutic Targeting of RNA Splicing in Cancer.

Bonner EA et al.

Genes, 2023

Breast metastatic tumors in lung can be substituted by lung-derived malignant cells transformed by alternative splicing H19 lncRNA.

Xu JB et al.

Breast Cancer Research : Bcr, 2023

The E592K variant of SF3B1 creates unique RNA missplicing and associates with high-risk MDS without ring sideroblasts.

Choi IY et al.

Research Square, 2023

Investigating the Role of DUSP4 in Uveal Melanoma.

Aughton K et al.

Translational Vision Science & Technology, 2022

36576731 (PubMed )
Supplement: tvst-11-12-13_s004.pdf

Cancer-driving mutations are enriched in genic regions intolerant to germline variation.

Vitsios D et al.

Science Advances, 2022

36026442 (PubMed )
Supplement: sciadv.abo6371_tables_s1_to_s13.zip › sciadv.abo6371_tables_s1_to_s13.xlsx › S1

Correlation between BAP1 Localization, Driver Mutations, and Patient Survival in Uveal Melanoma.

Cole YC et al.

Cancers, 2022

36077643 (PubMed )
Supplement: cancers-14-04105-s001.zip › Table_S3._Mutational_and_Chromosomal_characteristics_of_UM_Tumours_and_Accompanying_Clinical_Data_of_Patients.xlsx › Table_S3.

Synthetic introns enable splicing factor mutation-dependent targeting of cancer cells.

North K et al.

Nature Biotechnology, 2022

The longitudinal dynamics and natural history of clonal haematopoiesis.

Fabre MA et al.

Nature, 2022

35650444 (PubMed )
Supplement: 41586_2022_4785_MOESM12_ESM.xlsx › MDS

Glycolysis Dependency as a Hallmark of SF3B1-Mutated Cells.

Vivet-Noguer R et al.

Cancers, 2022

An improved molecular inversion probe based targeted sequencing approach for low variant allele frequency.

Biezuner T et al.

Nar Genomics and Bioinformatics, 2022

35156021 (PubMed )
Supplement: lqab125_supplemental_files.zip › Supplementary_Table_S1.xlsx › hotspots

Identification of Early-Onset Metastasis in SF3B1 Mutated Uveal Melanoma.

Drabarek W et al.

Cancers, 2022

35159112 (PubMed )
Supplement: cancers-14-00846-s001.zip › SuppTables.xlsx › Supplementary_table_S1

Co-occurrence of BAP1 and SF3B1 mutations in uveal melanoma induces cellular senescence.

Yu L et al.

Molecular Oncology, 2022

Case Report: GNAQ- and SF3B1 Mutations in an Aggressive Case of Relapsing Uveal Ring Melanoma.

Prasuhn M et al.

Frontiers in Oncology, 2022

[Screening of drugs that selectively inhibit uveal melanoma cells with SF3B1 mutations].

Luo X et al.

Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2021

Prognostic Values of G-Protein Mutations in Metastatic Uveal Melanoma.

Terai M et al.

Cancers, 2021

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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."