Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.A574V
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BAP1

NM_004656.4:p.A574V

Associated Papers

De Novo Cancer Mutations Frequently Associate with Recurrent Chromosomal Abnormalities during Long-Term Human Pluripotent Stem Cell Culture.

Al Delbany D et al.

Cells, 2024

39195283 (PubMed )
Supplement: cells-13-01395-s001.zip › Source_data_Final.xlsx › Figure_1J

Saturation genome editing of BAP1 functionally classifies somatic and germline variants.

Waters AJ et al.

Nature Genetics, 2024

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

A population-based analysis of germline BAP1 mutations in melanoma.

O'Shea SJ et al.

Human Molecular Genetics, 2017

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

Recurrent chromosomal gains and heterogeneous driver mutations characterise papillary renal cancer evolution.

Kovac M et al.

Nature Communications, 2015

25790038 (PubMed )
Supplement: ncomms7336-s1.pdf
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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."