Varaico: Literature-Extracted Genetic Variants

Gene:CBL
Variant:p.I383M
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CBL

NM_005188.4:p.I383M

Associated Papers

CALR-mutant myeloproliferative neoplasms: insights from next-generation sequencing.

Mroczkowska-Bękarciak A et al.

Journal of Applied Genetics, 2026

Dynamics of clonal hematopoiesis and cellular responses to stress-induced toxicity in autologous stem cell transplantation.

Stein CM et al.

Leukemia, 2026

41419602 (PubMed )
Supplement: 41375_2025_2823_MOESM2_ESM.xlsx › putative_variants

Clonal haematopoiesis of indeterminate potential and mortality in coronary artery disease.

von Scheidt M et al.

European Heart Journal, 2026

40900105 (PubMed )
Supplement: ehaf602_supplementary_data.pdf

Unveiling splicing disruptions due to common somatic variants in acute myeloid leukemia.

Morote-Faubel M et al.

Human Genomics, 2025

41189001 (PubMed )
Supplement: 40246_2025_842_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 › CH_cohort

UNISOM: Unified Somatic Calling and Machine Learning-based Classification Enhance the Discovery of CHIP.

Tian S et al.

Genomics, Proteomics & Bioinformatics, 2025

40300108 (PubMed )
Supplement: qzaf040_supplementary_data.zip › Table_S6.xlsx › Sheet1

A microglia clonal inflammatory disorder in Alzheimer's disease.

Vicario R et al.

Elife, 2025

A microglia clonal inflammatory disorder in Alzheimer's Disease.

Vicario R et al.

Biorxiv : the Preprint Server for Biology, 2024

Clinical and molecular features of CBL-mutated juvenile myelomonocytic leukemia.

Yoshida T et al.

Haematologica, 2023

37226702 (PubMed )
Supplement: 2022_282385_YOSHIDA_SUPPL_TABS2.xlsx › Sheet1

Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.

Nannya Y et al.

Blood Advances, 2023

36989067 (PubMed )
Supplement: BLOODA_ADV-2022-009564-mmc2.xlsx › SuppTable2

Dramatic response to local radiotherapy in a refractory metastatic mediastinal yolk sac tumor patient harboring a germline BRCA2 frameshift mutation: a case report.

Cheng X et al.

Cancer Biology & Therapy, 2022

Casitas B-lineage lymphoma Gene Mutation Ocular Phenotype.

Fardeau C et al.

International Journal of Molecular Sciences, 2022

The longitudinal dynamics and natural history of clonal haematopoiesis.

Fabre MA et al.

Nature, 2022

35650444 (PubMed )
Supplement: 41586_2022_4785_MOESM11_ESM.xlsx › historical_growth

Clinical Application of Comprehensive Genomic Profiling Tests for Diffuse Gliomas.

Omura T et al.

Cancers, 2022

35626060 (PubMed )
Supplement: cancers-14-02454-s001.zip › cancers-1674301-SI.xlsx › VUS

Uterine PEComas: correlation between melanocytic marker expression and TSC alterations/TFE3 fusions.

Bennett JA et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022

34131293 (PubMed )
Supplement: NIHMS1710671-supplement-Detailed_Sequencing_Variant_List.xlsx › Sheet1

Casitas B-lineage lymphoma mutation retinopathy mimicking uveitis.

Fardeau C et al.

Clinical & Experimental Ophthalmology, 2021

Integration of intra-sample contextual error modeling for improved detection of somatic mutations from deep sequencing.

Abelson S et al.

Science Advances, 2020

33298453 (PubMed )
Supplement: abe3722_Table_S7.xlsx › Sheet1

The combination of FLT3 and SYK kinase inhibitors is toxic to leukaemia cells with CBL mutations.

Weisberg E et al.

Journal of Cellular and Molecular Medicine, 2020

Invariant patterns of clonal succession determine specific clinical features of myelodysplastic syndromes.

Nagata Y et al.

Nature Communications, 2019

31772163 (PubMed )
Supplement: 41467_2019_13001_MOESM4_ESM.xlsx › SuppData2_AllVariantswithClone

PRR14L mutations are associated with chromosome 22 acquired uniparental disomy, age-related clonal hematopoiesis and myeloid neoplasia.

Chase A et al.

Leukemia, 2019

Applicability of next-generation sequencing to decalcified formalin-fixed and paraffin-embedded chronic myelomonocytic leukaemia samples.

Bernard V et al.

International Journal of Clinical and Experimental Pathology, 2014

Use of CBL exon 8 and 9 mutations in diagnosis of myeloproliferative neoplasms and myelodysplastic/myeloproliferative disorders: an analysis of 636 cases.

Schnittger S et al.

Haematologica, 2012

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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."