Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.R1217*
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BCOR

NM_001123385.2:p.R1217*

Associated Papers

Genomic Profiling of Pediatric Solid Tumors With a Dual DNA/RNA Panel: JCCG-TOP2 Study.

Tao K et al.

Cancer Science, 2026

41249692 (PubMed )
Supplement: CAS-117-522-s002.xlsx › Table_S4

Single-cell Transcriptional Atlas of Human Hematopoiesis Reveals Genetic and Hierarchy-Based Determinants of Aberrant AML Differentiation.

Zeng AGX et al.

Blood Cancer Discovery, 2025

40294241 (PubMed )
Supplement: bcd-24-0342_supplementary_tables_s1-s21_suppst1.xlsx › S18_-_Tapestri_CO131_Panel

Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.

Pepe D et al.

American Journal of Human Genetics, 2025

40359938 (PubMed )
Supplement: mmc5.xlsx › All

Persistent postremission clonal hematopoiesis shapes the relapse trajectories of acute myeloid leukemia.

Chow RD et al.

Blood Advances, 2025

39938015 (PubMed )
Supplement: BLOODA_ADV-2024-015149-mmc2.xlsx › S3

Early drivers of clonal hematopoiesis shape the evolutionary trajectories of de novo acute myeloid leukemia.

Chow RD et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39252918 (PubMed )
Supplement: media-1.xlsx › S2

Whole Exome Sequencing of Intermediate-Risk Acute Myeloid Leukemia without Recurrent Genetic Abnormalities Offers Deeper Insights into New Diagnostic Classifications.

Guijarro F et al.

International Journal of Molecular Sciences, 2024

39201354 (PubMed )
Supplement: ijms-25-08669-s001.zip › ijms-3087068-supplementary › Supplementary_Tables_S1-S5.xlsx › Table_S1

Mutant U2AF1-Induced Mis-Splicing of mRNA Translation Genes Confers Resistance to Chemotherapy in Acute Myeloid Leukemia.

Jin P et al.

Cancer Research, 2024

38417135 (PubMed )
Supplement: can-23-2543_supplementary_table_s1-s20_suppst1-20.xlsx › Table20

Aging and comprehensive molecular profiling in acute myeloid leukemia.

Li JF et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

38422020 (PubMed )
Supplement: pnas.2319366121.sd02.xlsx › Sheet_1

Digging into the NGS Information from a Large-Scale South European Population with Metastatic/Unresectable Pancreatic Ductal Adenocarcinoma: A Real-World Genomic Depiction.

Ziogas DC et al.

Cancers, 2023

38201431 (PubMed )
Supplement: cancers-16-00002-s001.zip › Supplementary_Tables.pdf

Clonal selection of hematopoietic stem cells after gene therapy for sickle cell disease.

Spencer Chapman M et al.

Nature Medicine, 2023

37973947 (PubMed )
Supplement: 41591_2023_2636_MOESM1_ESM.pdf

Compartment-specific mutational landscape of clonal hematopoiesis.

Hartmann L et al.

Leukemia, 2022

36131041 (PubMed )
Supplement: 41375_2022_1700_MOESM1_ESM.pdf

ERG amplification is a secondary recurrent driver event in myeloid malignancy with complex karyotype and TP53 mutations.

Lee WY et al.

Genes, Chromosomes & Cancer, 2022

The Mutational Landscape of Acute Myeloid Leukaemia Predicts Responses and Outcomes in Elderly Patients from the PETHEMA-FLUGAZA Phase 3 Clinical Trial.

Ayala R et al.

Cancers, 2021

34070172 (PubMed )
Supplement: cancers-13-02458-s001.zip › cancers-1203671-supplementary › Table_S8.xlsx › Hoja2

Concurrent mutations in other epigenetic modulators portend better prognosis in BCOR-mutated myelodysplastic syndrome.

Badaat I et al.

Journal of Clinical Pathology, 2020

Clinical impact of the subclonal architecture and mutational complexity in chronic lymphocytic leukemia.

Nadeu F et al.

Leukemia, 2018

28924241 (PubMed )
Supplement: leu2017291x4.xlsx › Table_S7

Frequent BCOR aberrations in extranodal NK/T-Cell lymphoma, nasal type.

Dobashi A et al.

Genes, Chromosomes & Cancer, 2016

Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome.

Feberwee HE et al.

Clinical Genetics, 2014

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