Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.T517M
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BAP1

NM_004656.4:p.T517M

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_MOESM7_ESM.xlsx › Supplementary_Table_6

Single Cell Genetic Profiling of Tumors of Breast Cancer Patients Aged 50 Years and Older Reveals Enormous Intratumor Heterogeneity Independent of Individual Prognosis.

Liegmann AS et al.

Cancers, 2021

34282768 (PubMed )
Supplement: cancers-13-03366-s001.zip › cancers-1245840-SI › Supplementary_Files › Supplemental_Tables › S10_Supplemental_Table.xlsx › all

Detection of novel germline mutations in six breast cancer predisposition genes by targeted next-generation sequencing.

Dong L et al.

Human Mutation, 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

Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development.

Giannikou K et al.

Plos Genetics, 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
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