Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.P175R
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BAP1

NM_004656.4:p.P175R

Associated Papers

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

Oncogenic activation revealed by FGFR2 genetic alterations in intrahepatic cholangiocarcinomas.

Pu X et al.

Cell & Bioscience, 2023

37964396 (PubMed )
Supplement: 13578_2023_1156_MOESM12_ESM.xls › ____

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

Genomic comparison of malignant melanoma and atypical Spitz tumor in the pediatric population.

Church AJ et al.

Pediatric Dermatology, 2022

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

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

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

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

Comparison of Germline versus Somatic BAP1 Mutations for Risk of Metastasis in Uveal Melanoma.

Ewens KG et al.

Bmc Cancer, 2018

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."