Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.R551C
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BAP1

NM_004656.4:p.R551C

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_b

Germline Variants Associated with Nasopharyngeal Carcinoma Predisposition Identified through Whole-Exome Sequencing.

Lee NY et al.

Cancers, 2022

35954343 (PubMed )
Supplement: cancers-14-03680-s001.zip › NPC_WES_study_Table_S3.xlsx › All

Genomic profiling of Chinese patients with urothelial carcinoma.

Yang B et al.

Bmc Cancer, 2021

33588785 (PubMed )
Supplement: 12885_2021_7829_MOESM3_ESM.xlsx › Germline_variants

pTuneos: prioritizing tumor neoantigens from next-generation sequencing data.

Zhou C et al.

Genome Medicine, 2019

31666118 (PubMed )
Supplement: 13073_2019_679_MOESM11_ESM.xlsx › Table_S10.C

Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Yehia L et al.

Plos Genetics, 2018

29684080 (PubMed )
Supplement: pgen.1007352.s010.xlsx › S9_Table

Patterns and functional implications of rare germline variants across 12 cancer types.

Lu C et al.

Nature Communications, 2015

26689913 (PubMed )
Supplement: ncomms10086-s13.xlsx › supplementary_data_12
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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."