Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.R1547*
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BCOR

NM_001123385.2:p.R1547*

Associated Papers

Genetic mechanisms of resistance to targeted KRAS inhibition.

Diaz BJ et al.

Biorxiv : the Preprint Server for Biology, 2025

40799582 (PubMed )
Supplement: media-3.xlsx › Table_S1B

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

Comprehensive analysis of clinical, pathological, and molecular features in chronic myelomonocytic leukemia: frequent ASXL1 and NRAS mutations and higher mutation burden in myeloproliferative CMML compared to myelodysplastic CMML.

Jeong Y

Leukemia & Lymphoma, 2025

39819262 (PubMed )
Supplement: supplement_1.pdf

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

Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells.

Robinson PS et al.

Nature Communications, 2022

35803914 (PubMed )
Supplement: 41467_2022_31341_MOESM4_ESM.xlsx › Supplementary_Data_Table_3

Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Sánchez-Rivera FJ et al.

Nature Biotechnology, 2022

35165384 (PubMed )
Supplement: NIHMS1760571-supplement-Supplementary_Table_S2.xlsx › Table_S2D

Comprehensive analysis of genetic factors predicting overall survival in Myelodysplastic syndromes.

Maurya N et al.

Scientific Reports, 2022

35396491 (PubMed )
Supplement: 41598_2022_9864_MOESM9_ESM.xlsx › Sheet1

Utility of clinical comprehensive genomic characterization for diagnostic categorization in patients presenting with hypocellular bone marrow failure syndromes.

Blombery P et al.

Haematologica, 2021

Analytical and Potential Clinical Performance of Oncomine Myeloid Research Assay for Myeloid Neoplasms.

Park J et al.

Molecular Diagnosis & Therapy, 2020

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

Badaat I et al.

Journal of Clinical Pathology, 2020

The modular network structure of the mutational landscape of Acute Myeloid Leukemia.

Ibáñez M et al.

Plos One, 2018

30303964 (PubMed )
Supplement: pone.0202926.s006.pdf

Diagnosing the cause of bilateral paediatric cataracts: comparison of standard testing with a next-generation sequencing approach.

Musleh M et al.

Eye (london, England), 2016

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

Feberwee HE et al.

Clinical Genetics, 2014

Whole-exome sequencing identifies somatic mutations of BCOR in acute myeloid leukemia with normal karyotype.

Grossmann V et al.

Blood, 2011

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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."