Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.C91S
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BAP1

NM_004656.4:p.C91S

Associated Papers

A scalable approach to resolving variants of uncertain significance.

Tejura M et al.

Biorxiv : the Preprint Server for Biology, 2026

41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP

Regulation of BAP1 activity by novel cancer-associated glutamate residues through ubiquitin binding and PARylation.

Lee J et al.

Biochemical and Biophysical Research Communications, 2026

PARP1 cooperates with ASXL1 to stimulate BAP1 deubiquitinase activity through its DNA-binding domain.

Lee B et al.

Biochemical and Biophysical Research Communications, 2025

AMPK-activated BAP1 regulates pVHL stability and tumor-suppressive functions.

Li M et al.

Cell Death and Differentiation, 2025

UFMylation maintains tumor suppressor pVHL stability by activating the deubiquitinase BAP1.

Yang X et al.

Science Advances, 2025

An overview of BAP1 biological functions and current therapeutics.

Elsayed AM et al.

Biochimica Et Biophysica Acta. Reviews on Cancer, 2025

An epigenetic pathway regulates MHC-II expression and function in B cell lymphoma models.

Zhang T et al.

The Journal of Clinical Investigation, 2025

BAP1 Represses Sequential Activation of IRAKs and NF-κB Signaling in Pancreatic Cancer.

Zhao Y et al.

International Journal of Biological Sciences, 2025

40083694 (PubMed )
Supplement: ijbsv21p1949s1.pdf

O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome.

Mayfield JM et al.

The Journal of Biological Chemistry, 2024

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

Waters AJ et al.

Nature Genetics, 2024

ASXLs binding to the PHD2/3 fingers of MLL4 provides a mechanism for the recruitment of BAP1 to active enhancers.

Zhang Y et al.

Nature Communications, 2024

BRCA1-associated protein 1: Tumor predisposition syndrome and Kury-Isidor syndrome, from genotype-phenotype correlation to clinical management.

West EC et al.

Clinical Genetics, 2024

H2A monoubiquitination: insights from human genetics and animal models.

Ryan CW et al.

Human Genetics, 2024

Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders.

Riquin K et al.

Journal of Medical Genetics, 2023

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

Thomas JF et al.

Science Advances, 2023

[RITA selectively inhibits proliferation of BAP1-deficient cutaneous melanoma cells in vitro].

Shi W et al.

Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2023

BAP1 as a guardian of genome stability: implications in human cancer.

Kwon J et al.

Experimental & Molecular Medicine, 2023

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

Targeting BAP1 with small compound inhibitor for colon cancer treatment.

Kang M et al.

Scientific Reports, 2023

BAP1 is a novel regulator of HIF-1α.

Bononi A et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

BAP1 promotes the repair of UV-induced DNA damage via PARP1-mediated recruitment to damage sites and control of activity and stability.

Lee SA et al.

Cell Death and Differentiation, 2022

Genomic Profiling of Metastatic Uveal Melanoma Shows Frequent Coexisting BAP1 or SF3B1 and GNAQ/GNA11 Mutations and Correlation With Prognosis.

Isaacson AL et al.

American Journal of Clinical Pathology, 2022

BAP1 loss augments sensitivity to BET inhibitors in cancer cells.

Xu YY et al.

Acta Pharmacologica Sinica, 2022

Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.

Denisova E et al.

Cancer Gene Therapy, 2022

34045664 (PubMed )
Supplement: 41417_2021_347_MOESM4_ESM.xls › C000-JMUDMJ

Bap1/SMN axis in Dpp4+ skeletal muscle mesenchymal cells regulates the neuromuscular system.

Kim JH et al.

Jci Insight, 2022

The fellowship of the RING: BRCA1, its partner BARD1 and their liaison in DNA repair and cancer.

Russi M et al.

Pharmacology & Therapeutics, 2022

Regulatory roles of an atypical ubiquitin ligase UBE2O in orphans of multiprotein complexes for degradation.

Lv Y et al.

Turkish Journal of Biology = Turk Biyoloji Dergisi, 2022

BAP1 forms a trimer with HMGB1 and HDAC1 that modulates gene × environment interaction with asbestos.

Novelli F et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

BAP1 enhances Polycomb repression by counteracting widespread H2AK119ub1 deposition and chromatin condensation.

Conway E et al.

Molecular Cell, 2021

Kinetic Characterization of ASXL1/2-Mediated Allosteric Regulation of the BAP1 Deubiquitinase.

Peng H et al.

Molecular Cancer Research : Mcr, 2021

Monosomy 3 Is Linked to Resistance to MEK Inhibitors in Uveal Melanoma.

Mergener S et al.

International Journal of Molecular Sciences, 2021

A BAP1 synonymous mutation results in exon skipping, loss of function and worse patient prognosis.

Niersch J et al.

Iscience, 2021

CHIP and BAP1 Act in Concert to Regulate INO80 Ubiquitination and Stability for DNA Replication.

Seo HR et al.

Molecules and Cells, 2021

BAP1 suppresses prostate cancer progression by deubiquitinating and stabilizing PTEN.

Deng R et al.

Molecular Oncology, 2021

Proteomic analysis identifies novel binding partners of BAP1.

Baas R et al.

Plos One, 2021

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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."