Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.H169Q
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BAP1

NM_004656.4:p.H169Q

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

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

Waters AJ et al.

Nature Genetics, 2024

38969833 (PubMed )
Supplement: 41588_2024_1799_MOESM12_ESM.zip › source_data_figure_6 › source_data_fig_6_ce.xlsx › source_data_fig_6_c

The Mutational Spectrum of Pre- and Post-Neoadjuvant Chemotherapy Triple-Negative Breast Cancers.

Aguilar-Mahecha A et al.

Genes, 2023

38254917 (PubMed )
Supplement: genes-15-00027-s001.zip › Aguilar-Mahecha_et_al_SupplTables_Finalv2.xlsx › Suppl_Table_S2

Application of Genomic Sequencing to Refine Patient Stratification for Adjuvant Therapy in Renal Cell Carcinoma.

Vasudev NS et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

36815791 (PubMed )
Supplement: ccr-22-1936_supplementary_table_s2_suppts2.xlsx › Sheet1

Intrinsic Disorder in BAP1 and Its Association with Uveal Melanoma.

Djulbegovic MB et al.

Genes, 2022

36292588 (PubMed )
Supplement: genes-13-01703-s001.zip › genes-1889968-supplementary.pdf

Somatic mutation and expression of BAP1 in hepatocellular carcinoma: an indicator for ferroptosis and immune checkpoint inhibitor therapies.

Yan YC et al.

Journal of Cancer, 2022

Analytical Validation and Performance of a 7-Gene Next-Generation Sequencing Panel in Uveal Melanoma.

Alsina KM et al.

Ocular Oncology and Pathology, 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 links metabolic regulation of ferroptosis to tumour suppression.

Zhang Y et al.

Nature Cell Biology, 2018

30202049 (PubMed )
Supplement: NIHMS1501646-supplement-Sup_Table_3.xlsx › Sheet1

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

Pan-cancer analysis of bi-allelic alterations in homologous recombination DNA repair genes.

Riaz N et al.

Nature Communications, 2017

29021619 (PubMed )
Supplement: 41467_2017_921_MOESM6_ESM.xlsx › Sheet1

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

Concurrent alterations in TERT, KDM6A, and the BRCA pathway in bladder cancer.

Nickerson ML et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2014

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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