Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.S482L
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BAP1

NM_004656.4:p.S482L

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_j

Molecular characterization of the evolution of premalignant lesions in the upper aerodigestive tract.

Lechner A et al.

Frontiers in Oncology, 2024

38706595 (PubMed )
Supplement: Table_3.xlsx › Sheet1

Mutational Landscape of the BAP1 Locus Reveals an Intrinsic Control to Regulate the miRNA Network and the Binding of Protein Complexes in Uveal Melanoma.

Sharma A et al.

Cancers, 2019

31635116 (PubMed )
Supplement: cancers-11-01600-s001.pdf

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

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

Combined Genetic and Genealogic Studies Uncover a Large BAP1 Cancer Syndrome Kindred Tracing Back Nine Generations to a Common Ancestor from the 1700s.

Carbone M et al.

Plos Genetics, 2015

26683624 (PubMed )
Supplement: pgen.1005633.s003.pdf
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