Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.N78S
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BAP1

NM_004656.4:p.N78S

Associated Papers

To be or not to be a protein coding mutation, that's the question!

De Groote D et al.

Nar Genomics and Bioinformatics, 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

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_a

Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer.

Cotto KC et al.

Nature Communications, 2023

36949070 (PubMed )
Supplement: 41467_2023_37266_MOESM7_ESM.xlsx › supplemental_file_5

Correlation between BAP1 Localization, Driver Mutations, and Patient Survival in Uveal Melanoma.

Cole YC et al.

Cancers, 2022

36077643 (PubMed )
Supplement: cancers-14-04105-s001.zip › cancers-1858458-supplementary.pdf

Co-occurrence of BAP1 and SF3B1 mutations in uveal melanoma induces cellular senescence.

Yu L et al.

Molecular Oncology, 2022

34706158 (PubMed )
Supplement: MOL2-16-607-s006.xls › TCGA_UM_dataset

Paired comparisons of mutational profiles before and after brachytherapy in asian uveal melanoma patients.

Lee WS et al.

Scientific Reports, 2021

34545149 (PubMed )
Supplement: 41598_2021_98084_MOESM2_ESM.xlsx › Somatic_SNV_Primary_TCGA

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

Niersch J et al.

Iscience, 2021

Somatic Evolution in Non-neoplastic IBD-Affected Colon.

Olafsson S et al.

Cell, 2020

32697969 (PubMed )
Supplement: mmc4.xlsx › A__TCGA_hotspots

Comprehensive Study of the Clinical Phenotype of Germline BAP1 Variant-Carrying Families Worldwide.

Walpole S et al.

Journal of the National Cancer Institute, 2018

Multiple tumor suppressors regulate a HIF-dependent negative feedback loop via ISGF3 in human clear cell renal cancer.

Liao L et al.

Elife, 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

Systematic Analysis of Splice-Site-Creating Mutations in Cancer.

Jayasinghe RG et al.

Cell Reports, 2018

Pan-cancer repository of validated natural and cryptic mRNA splicing mutations.

Shirley BC et al.

F1000research, 2018

A BAP1 Mutation-specific MicroRNA Signature Predicts Clinical Outcomes in Clear Cell Renal Cell Carcinoma Patients with Wild-type BAP1.

Ge YZ et al.

Journal of Cancer, 2017

28900502 (PubMed )
Supplement: jcav08p2643s1.pdf

Germline BAP1 Mutational Landscape of Asbestos-Exposed Malignant Mesothelioma Patients with Family History of Cancer.

Ohar JA et al.

Cancer Research, 2016

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

Mutational landscape and significance across 12 major cancer types.

Kandoth C et al.

Nature, 2013

24132290 (PubMed )
Supplement: 41586_2013_BFnature12634_MOESM82_ESM.zip › nature12634-s1 › Supplementary_Table_5.xlsx › S_Table_5

A novel germline mutation in BAP1 predisposes to familial clear-cell renal cell carcinoma.

Farley MN et al.

Molecular Cancer Research : Mcr, 2013

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