Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.R1164*
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BCOR

NM_001123385.2:p.R1164*

Associated Papers

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

Wnt/β-catenin activation by mutually exclusive FBXW11 and CTNNB1 hotspot mutations drives salivary basal cell adenoma.

Wong K et al.

Nature Communications, 2025

40389436 (PubMed )
Supplement: 41467_2025_59871_MOESM4_ESM.xlsx › Supp._Data_2b_-_BCAC

Case Report: A familial hematological pedigree reveals VHL germline mutation as a principal predisposition factor with additional mutations modulating phenotypic heterogeneity.

Chen H et al.

Frontiers in Oncology, 2025

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table3.xls › Mutations_in_primary_tumor

Genetics of bilateral pediatric cataract in the Israeli and Palestinian populations.

Yahalom C et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2024

Characterizing the Mutational Landscape of Diffuse Large B-Cell Lymphoma in a Prospective Cohort of Mexican Patients.

Candelaria M et al.

International Journal of Molecular Sciences, 2024

39273276 (PubMed )
Supplement: ijms-25-09328-s001.zip › ijms-3114367-supplementary.pdf

A new genomic framework to categorize pediatric acute myeloid leukemia.

Umeda M et al.

Nature Genetics, 2024

38212634 (PubMed )
Supplement: 41588_2023_1640_MOESM5_ESM.xlsx › Extended_data_Fig.1_source_data

Mutational spectrum in a Chinese cohort with congenital cataracts.

Liu HL et al.

Molecular Genetics & Genomic Medicine, 2023

Prevalence and spectrum of cancer predisposition germline mutations in young patients with the common late-onset cancers.

Hao S et al.

Cancer Medicine, 2023

37610374 (PubMed )
Supplement: CAM4-12-18394-s002.xlsx › Somatic_variants

Genomics-Driven Precision Medicine in Pediatric Solid Tumors.

Suthapot P et al.

Cancers, 2023

De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.

Li W et al.

Investigative Ophthalmology & Visual Science, 2023

36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant

Compartment-specific mutational landscape of clonal hematopoiesis.

Hartmann L et al.

Leukemia, 2022

36131041 (PubMed )
Supplement: 41375_2022_1700_MOESM1_ESM.pdf

Substantial somatic genomic variation and selection for BCOR mutations in human induced pluripotent stem cells.

Rouhani FJ et al.

Nature Genetics, 2022

35953586 (PubMed )
Supplement: 41588_2022_1147_MOESM4_ESM.xlsx › Table_S10_insignia_coding_muts

The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencing.

Fan F et al.

Bmc Ophthalmology, 2020

Integrated Genetic, Epigenetic, and Transcriptional Profiling Identifies Molecular Pathways in the Development of Laterally Spreading Tumors.

Hesson LB et al.

Molecular Cancer Research : Mcr, 2016

27671336 (PubMed )
Supplement: 15417786mcr160175-sup-165857_1_supp_3615939_cbj153.xlsx › WES_Synch_G1_SNV

Review Recent progress in identification and characterization of loci associated with sex-linked congenital cataract.

Zhang DD et al.

Genetics and Molecular Research : Gmr, 2016

Development and clinical application of an integrative genomic approach to personalized cancer therapy.

Uzilov AV et al.

Genome Medicine, 2016

27245685 (PubMed )
Supplement: 13073_2016_313_MOESM1_ESM.xlsx › S5

Gliomatosis cerebri in children shares molecular characteristics with other pediatric gliomas.

Broniscer A et al.

Acta Neuropathologica, 2016

Evidence of Germline Mosaicism for a Novel BCOR Mutation in Two Indian Sisters with Oculo-Facio-Cardio-Dental Syndrome.

Danda S et al.

Molecular Syndromology, 2014

The genomic landscape of diffuse intrinsic pontine glioma and pediatric non-brainstem high-grade glioma.

Wu G et al.

Nature Genetics, 2014

24705251 (PubMed )
Supplement: NIHMS573627-supplement-2.xlsx › ST4a
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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."