Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.C91W
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BAP1

NM_004656.4:p.C91W

Associated Papers

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

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

Structural basis of histone H2A lysine 119 deubiquitination by Polycomb repressive deubiquitinase BAP1/ASXL1.

Thomas JF et al.

Science Advances, 2023

37556531 (PubMed )
Supplement: sciadv.adg9832_sm.pdf

Structural basis of histone H2A lysine 119 deubiquitination by Polycomb Repressive Deubiquitinase BAP1/ASXL1.

Thomas JF et al.

Biorxiv : the Preprint Server for Biology, 2023

36865140 (PubMed )
Supplement: NIHPP2023.02.23.529554v1-supplement-1.pdf

Multi-omics Profiling Shows BAP1 Loss Is Associated with Upregulated Cell Adhesion Molecules in Uveal Melanoma.

Baqai U et al.

Molecular Cancer Research : Mcr, 2022

Roles and mechanisms of BAP1 deubiquitinase in tumor suppression.

Masclef L et al.

Cell Death and Differentiation, 2021

Genetic alterations of malignant pleural mesothelioma: association with tumor heterogeneity and overall survival.

Quetel L et al.

Molecular Oncology, 2020

32083805 (PubMed )
Supplement: MOL2-14-1207-s005.xlsx › Table_S4

BAP1 regulates epigenetic switch from pluripotency to differentiation in developmental lineages giving rise to BAP1-mutant cancers.

Kuznetsov JN et al.

Science Advances, 2019

Familial and Somatic BAP1 Mutations Inactivate ASXL1/2-Mediated Allosteric Regulation of BAP1 Deubiquitinase by Targeting Multiple Independent Domains.

Peng H et al.

Cancer Research, 2018

GNA11 Q209L Mouse Model Reveals RasGRP3 as an Essential Signaling Node in Uveal Melanoma.

Moore AR et al.

Cell Reports, 2018

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

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

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

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

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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