Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.I191T
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BAP1

NM_004656.4:p.I191T

Associated Papers

Genomic instability and CCNE1 amplification as emerging biomarkers for stratifying high-grade serous ovarian cancer.

Conca E et al.

Frontiers in Oncology, 2025

40842600 (PubMed )
Supplement: Table2.xlsx › Foglio1

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

Waters AJ et al.

Nature Genetics, 2024

38969833 (PubMed )
Supplement: 41588_2024_1799_MOESM12_ESM.zip › source_data_figure_6 › source_data_fig_6_ce.xlsx › source_data_fig_6_c

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_AD
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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."