Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.P519A
Back to variants list

BAP1

NM_004656.4:p.P519A

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

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

Prevalence of Germline BAP1, CDKN2A, and CDK4 Mutations in an Australian Population-Based Sample of Cutaneous Melanoma Cases.

Aoude LG et al.

Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."