Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.A95D
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BAP1

NM_004656.4:p.A95D

Associated Papers

SATB2 Induces Malignant Transformation and Cancer Stem Cell Characteristics, and Inhibition of Its Expression Reverses Drug Resistance in Mesothelioma.

Brown C et al.

Cells, 2026

Characterization of BRCA1-Associated Protein-1 (BAP1) Aggregation Properties Induced by Cancer-Associated Mutations.

Hsiao LC et al.

Chembiochem : a European Journal of Chemical Biology, 2025

Saturation genome editing of BAP1 functionally classifies somatic and germline variants.

Waters AJ et al.

Nature Genetics, 2024

38969833 (PubMed )
Supplement: 41588_2024_1799_MOESM19_ESM.xlsx › extended_data_fig_7_b

The BAP1 nuclear deubiquitinase is involved in the nonhomologous end-joining pathway of double-strand DNA repair through interaction with DNA-PK.

Sato H et al.

Oncogene, 2024

38383726 (PubMed )
Supplement: 41388_2024_2966_MOESM4_ESM.docx

BAP1 Malignant Pleural Mesothelioma Mutations in Caenorhabditis elegans Reveal Synthetic Lethality between ubh-4/BAP1 and the Proteasome Subunit rpn-9/PSMD13.

Martínez-Fernández C et al.

Cells, 2023

BAP1 loss induces mitotic defects in mesothelioma cells through BRCA1-dependent and independent mechanisms.

Singh A et al.

Oncogene, 2023

BAP1 and YY1 regulate expression of death receptors in malignant pleural mesothelioma.

Ishii Y et al.

The Journal of Biological Chemistry, 2021

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

PR-DUB maintains the expression of critical genes through FOXK1/2- and ASXL1/2/3-dependent recruitment to chromatin and H2AK119ub1 deubiquitination.

Kolovos P et al.

Genome Research, 2020

BAP1 Missense Mutations in Cancer: Friend or Foe?

Okonska A et al.

Trends in Cancer, 2019

A bidentate Polycomb Repressive-Deubiquitinase complex is required for efficient activity on nucleosomes.

Foglizzo M et al.

Nature Communications, 2018

30258054 (PubMed )
Supplement: 41467_2018_6186_MOESM1_ESM.pdf

Cancer associated missense mutations in BAP1 catalytic domain induce amyloidogenic aggregation: A new insight in enzymatic inactivation.

Bhattacharya S et al.

Scientific Reports, 2015

Tumor suppressor ASXL1 is essential for the activation of INK4B expression in response to oncogene activity and anti-proliferative signals.

Wu X et al.

Cell Research, 2015

Computational analysis of the mutations in BAP1, PBRM1 and SETD2 genes reveals the impaired molecular processes in renal cell carcinoma.

Piva F et al.

Oncotarget, 2015

Functional differences between wild-type and mutant-type BRCA1-associated protein 1 tumor suppressor against malignant mesothelioma cells.

Hakiri S et al.

Cancer Science, 2015

Prevalence of BRCA-1 associated protein 1 germline mutation in sporadic malignant pleural mesothelioma cases.

Rusch A et al.

Lung Cancer (amsterdam, Netherlands), 2015

BAP1, PBRM1 and SETD2 in clear-cell renal cell carcinoma: molecular diagnostics and possible targets for personalized therapies.

Piva F et al.

Expert Review of Molecular Diagnostics, 2015

Germline mutations in BAP1 impair its function in DNA double-strand break repair.

Ismail IH et al.

Cancer Research, 2014

Frequent inactivation of the BAP1 gene in epithelioid-type malignant mesothelioma.

Yoshikawa Y et al.

Cancer Science, 2012

The nuclear deubiquitinase BAP1 is commonly inactivated by somatic mutations and 3p21.1 losses in malignant pleural mesothelioma.

Bott M et al.

Nature Genetics, 2011

An emerging model for BAP1's role in regulating cell cycle progression.

Eletr ZM et al.

Cell Biochemistry and Biophysics, 2011

The potential role of ubiquitin c-terminal hydrolases in oncogenesis.

Fang Y et al.

Biochimica Et Biophysica Acta, 2010

BRCA1-associated protein-1 is a tumor suppressor that requires deubiquitinating activity and nuclear localization.

Ventii KH et al.

Cancer Research, 2008

AlphaMissense Predictions and ClinVar Annotations: A Deep Learning Approach to Uveal Melanoma.

Taylor Gonzalez DJ et al.

Ophthalmology Science, 0

40114711 (PubMed )
Supplement: mmc1.docx
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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."