Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.S172R
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BAP1

NM_004656.4:p.S172R

Associated Papers

An Optimized NGS Workflow Defines Genetically Based Prognostic Categories for Patients with Uveal Melanoma.

Massimino M et al.

Biomolecules, 2025

39858540 (PubMed )
Supplement: biomolecules-15-00146-s001.zip › Table_S6.xlsx › SNV_INDELs_UM

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

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

Case report: Mesothelioma and BAP1 tumor predisposition syndrome: Implications for public health.

Vimercati L et al.

Frontiers in Oncology, 2022

Mesothelioma developing in carriers of inherited genetic mutations.

Yoshikawa Y et al.

Translational Lung Cancer Research, 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

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

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

Klebe S et al.

Biomarker Research, 2015

A distinct subset of atypical Spitz tumors is characterized by BRAF mutation and loss of BAP1 expression.

Wiesner T et al.

The American Journal of Surgical Pathology, 2012

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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