Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.H193Q
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BAP1

NM_004656.4:p.H193Q

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

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.

Somatic mutations in renal cell carcinomas from Chinese patients revealed by targeted gene panel sequencing and their associations with prognosis and PD-L1 expression.

Wang J et al.

Cancer Communications (london, England), 2019

Somatic mutations in renal cell carcinomas from Chinese patients revealed by whole exome sequencing.

Wang J et al.

Cancer Cell International, 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

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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