Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.Y173C
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BAP1

NM_004656.4:p.Y173C

Associated Papers

First Report of BAP1-Associated Polyposis.

Jacobson AL et al.

American Journal of Medical Genetics. Part A, 2025

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

DNA damage response and repair gene mutations predict clinical outcomes in biliary tract cancer.

Tan S et al.

Cancer, 2025

39876053 (PubMed )
Supplement: supplement_1.pdf

Utilizing Patient-Derived Xenografts to Model Precision Oncology for Biliary Tract Cancer.

DiPeri TP et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

39513959 (PubMed )
Supplement: ccr-24-1233_supplementary_tables_1_-_8_suppts1.xlsx › Table_S3

Microdissection of Distinct Morphological Regions Within Uveal Melanomas Identifies Novel Drug Targets.

Toumi E et al.

Cancers, 2024

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

Characterization of somatic mutations in sporadic uveal melanoma and uveal melanoma in patients with germline BAP1 pathogenic variants.

Wadt KAW et al.

Plos One, 2024

39378214 (PubMed )
Supplement: pone.0306386.s001.xlsx › Ark2

Genomics driven precision oncology in advanced biliary tract cancer improves survival.

Kumar-Sinha C et al.

Neoplasia (new York, N.y.), 2023

Altered cytoplasmic and nuclear ADP-ribosylation levels analyzed with an improved ADP-ribose binder are a prognostic factor in renal cell carcinoma.

Schraml P et al.

The Journal of Pathology. Clinical Research, 2023

36999983 (PubMed )
Supplement: CJP2-9-273-s001.xlsx › Tumor_29

Potential prognostic role of somatic mutations in a set of cancer susceptibility genes in ovarian carcinoma: A follow-up multicentric study from Pakistan.

Masood A et al.

Cancer Biomarkers : Section a of Disease Markers, 2023

Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.

Yngvadottir B et al.

Human Molecular Genetics, 2022

35441217 (PubMed )
Supplement: hmg_supplementary_tables_1_2_5_6_revised_ddac089.xlsx › SuppTable1B

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 › Table_S3._Mutational_and_Chromosomal_characteristics_of_UM_Tumours_and_Accompanying_Clinical_Data_of_Patients.xlsx › Table_S3.

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

Driver mutations of intrahepatic cholangiocarcinoma shape clinically relevant genomic clusters with distinct molecular features and therapeutic vulnerabilities.

Wang XY et al.

Theranostics, 2022

34987644 (PubMed )
Supplement: thnov12p0260s1.pdf

Prognostic Values of G-Protein Mutations in Metastatic Uveal Melanoma.

Terai M et al.

Cancers, 2021

34830903 (PubMed )
Supplement: cancers-13-05749-s001.zip › cancers-1393069-supplementary.pdf

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

Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Cobain EF et al.

Jama Oncology, 2021

33630025 (PubMed )
Supplement: jamaoncol-e207987-s004.xlsx › Table

Integrative molecular characterization of sarcomatoid and rhabdoid renal cell carcinoma.

Bakouny Z et al.

Nature Communications, 2021

33547292 (PubMed )
Supplement: 41467_2021_21068_MOESM4_ESM.xlsx › oncop_maf

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

Transcriptomic characterization and innovative molecular classification of clear cell renal cell carcinoma in the Chinese population.

Zhao Q et al.

Cancer Cell International, 2020

32982583 (PubMed )
Supplement: 12935_2020_1552_MOESM2_ESM.xlsx › Table_S1_a

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

31635116 (PubMed )
Supplement: cancers-11-01600-s001.pdf

SRSF2 Mutations in Uveal Melanoma: A Preference for In-Frame Deletions?

van Poppelen NM et al.

Cancers, 2019

Multi-Modality Analysis Improves Survival Prediction in Enucleated Uveal Melanoma Patients.

Drabarek W et al.

Investigative Ophthalmology & Visual Science, 2019

31425584 (PubMed )
Supplement: iovs-60-08-34_s03.xlsx › Sheet1

The genetic evolution of metastatic uveal melanoma.

Shain AH et al.

Nature Genetics, 2019

Validation and Clinical Applications of a Comprehensive Next Generation Sequencing System for Molecular Characterization of Solid Cancer Tissues.

Dehghani M et al.

Frontiers in Molecular Biosciences, 2019

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

Walpole S et al.

Journal of the National Cancer Institute, 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

Genotypic and Phenotypic Features of BAP1 Cancer Syndrome: A Report of 8 New Families and Review of Cases in the Literature.

Haugh AM et al.

Jama Dermatology, 2017

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

Comparing the Prognostic Value of BAP1 Mutation Pattern, Chromosome 3 Status, and BAP1 Immunohistochemistry in Uveal Melanoma.

van de Nes JA et al.

The American Journal of Surgical Pathology, 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

Revealing the Molecular Portrait of Triple Negative Breast Tumors in an Understudied Population through Omics Analysis of Formalin-Fixed and Paraffin-Embedded Tissues.

Vaca-Paniagua F et al.

Plos One, 2015

25961742 (PubMed )
Supplement: pone.0126762.s015.xlsx › S11_Table

BAP1 hereditary cancer predisposition syndrome: a case report and review of literature.

Klebe S et al.

Biomarker Research, 2015

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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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."