Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.V447I
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BAP1

NM_004656.4:p.V447I

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

Genomic Analysis of Tumors from Patients with Glioblastoma with Long-Term Response to Afatinib.

Owen S et al.

Oncotargets and Therapy, 2022

Evidence for accelerated aging in mammary epithelia of women carrying germline BRCA1 or BRCA2 mutations.

Shalabi SF et al.

Nature Aging, 2021

35187501 (PubMed )
Supplement: NIHMS1772753-supplement-Supplementary_Tables_1_12.xlsx › Table_S1

SMO mutations confer poor prognosis in malignant pleural mesothelioma.

Signorelli D et al.

Translational Lung Cancer Research, 2020

Population-based analysis of BAP1 germline variations in patients with uveal melanoma.

Repo P et al.

Human Molecular Genetics, 2019

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

Afatinib, an irreversible ErbB family blocker, with protracted temozolomide in recurrent glioblastoma: a case report.

Alshami J et al.

Oncotarget, 2015

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