Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.E182D
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BAP1

NM_004656.4:p.E182D

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

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.

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

Mutational Analysis of 472 Urothelial Carcinoma Across Grades and Anatomic Sites.

Nassar AH et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019

30593515 (PubMed )
Supplement: 10780432ccr183147-sup-209386_2_supp_5192871_ptz639.xlsx › S1.4_Deleterious_SNV__indels

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

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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