Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.C91G
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BAP1

NM_004656.4:p.C91G

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

Clinical benefit of additional whole-exome sequencing over panel sequencing in an all-comer real-world molecular tumor board.

Krieghoff-Henning E et al.

Esmo Open, 2025

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

BAP1 inactivation promotes lactate production by leveraging the subcellular localization of LDHA in melanoma.

Zheng G et al.

Cell Death Discovery, 2024

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

Waters AJ et al.

Nature Genetics, 2024

Slow proliferation of BAP1-deficient uveal melanoma cells is associated with reduced S6 signaling and resistance to nutrient stress.

Chua V et al.

Science Signaling, 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

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

BAP1 maintains HIF-dependent interferon beta induction to suppress tumor growth in clear cell renal cell carcinoma.

Langbein LE et al.

Cancer Letters, 2022

Targeted Next-Generation Sequencing of 117 Routine Clinical Samples Provides Further Insights into the Molecular Landscape of Uveal Melanoma.

Thornton S et al.

Cancers, 2020

Functional characterisation guides classification of novel BAP1 germline variants.

Hong JH et al.

Npj Genomic Medicine, 2020

Mutational Landscape of the BAP1 Locus Reveals an Intrinsic Control to Regulate the miRNA Network and the Binding of Protein Complexes in Uveal Melanoma.

Sharma A et al.

Cancers, 2019

BAP1 links metabolic regulation of ferroptosis to tumour suppression.

Zhang Y et al.

Nature Cell Biology, 2018

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

Renal Cell Carcinoma: Molecular Aspects.

Kumar A et al.

Indian Journal of Clinical Biochemistry : Ijcb, 2018

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

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

26452128 (PubMed )
Supplement: oncotarget-06-32161-s002.xls › Predictions

Gender Specific Mutation Incidence and Survival Associations in Clear Cell Renal Cell Carcinoma (CCRCC).

Ricketts CJ et al.

Plos One, 2015

26484545 (PubMed )
Supplement: pone.0140257.s003.xlsx › Sheet1

Recognition of UbcH5c and the nucleosome by the Bmi1/Ring1b ubiquitin ligase complex.

Bentley ML et al.

The Embo Journal, 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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