Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.L49V
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BAP1

NM_004656.4:p.L49V

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_MOESM19_ESM.xlsx › extended_data_fig_7_a

Pan-cancer assessment of mutational landscape in intrinsically disordered hotspots reveals potential driver genes.

Zou H et al.

Nucleic Acids Research, 2022

35061901 (PubMed )
Supplement: gkac028_supplemental_files.zip › Table_S3_new.xlsx › Sheet1

Hsa-miR-155-5p Up-Regulation in Breast Cancer and Its Relevance for Treatment With Poly[ADP-Ribose] Polymerase 1 (PARP-1) Inhibitors.

Pasculli B et al.

Frontiers in Oncology, 2020

32903519 (PubMed )
Supplement: Table_1.xlsx › Supplemental_Table_7_

BAP1 links metabolic regulation of ferroptosis to tumour suppression.

Zhang Y et al.

Nature Cell Biology, 2018

30202049 (PubMed )
Supplement: NIHMS1501646-supplement-Sup_Table_3.xlsx › Sheet1

A BAP1 Mutation-specific MicroRNA Signature Predicts Clinical Outcomes in Clear Cell Renal Cell Carcinoma Patients with Wild-type BAP1.

Ge YZ et al.

Journal of Cancer, 2017

28900502 (PubMed )
Supplement: jcav08p2643s1.pdf

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

Gender Specific Mutation Incidence and Survival Associations in Clear Cell Renal Cell Carcinoma (CCRCC).

Ricketts CJ et al.

Plos One, 2015

26484545 (PubMed )
Supplement: pone.0140257.s003.xlsx › Sheet1

Mutational landscape and significance across 12 major cancer types.

Kandoth C et al.

Nature, 2013

24132290 (PubMed )
Supplement: 41586_2013_BFnature12634_MOESM82_ESM.zip › nature12634-s1 › Supplementary_Table_5.xlsx › S_Table_5

A novel germline mutation in BAP1 predisposes to familial clear-cell renal cell carcinoma.

Farley MN et al.

Molecular Cancer Research : Mcr, 2013

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