Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.R518W
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BAP1

NM_004656.4:p.R518W

Associated Papers

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

Waters AJ et al.

Nature Genetics, 2024

Integrative genomic and transcriptomic analyses illuminate the ontology of HER2-low breast carcinomas.

Berrino E et al.

Genome Medicine, 2022

36038884 (PubMed )
Supplement: 13073_2022_1104_MOESM10_ESM.xlsx › Supplementary_Table_S5

Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.

Yin L et al.

Jama Network Open, 2022

35171259 (PubMed )
Supplement: jamanetwopen-e2148721-s001.pdf

Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.

Manca A et al.

Journal of Translational Medicine, 2019

31455347 (PubMed )
Supplement: 12967_2019_2039_MOESM1_ESM.xlsx › Discovery_cohort_nsyn_variants

PTPRT and PTPRD Deleterious Mutations and Deletion Predict Bevacizumab Resistance in Metastatic Colorectal Cancer Patients.

Hsu HC et al.

Cancers, 2018

30200630 (PubMed )
Supplement: cancers-10-00314-s001.zip › cancers-335170-sup › Supplementary_Table_S2.xlsx › Supplementary_Table_2

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

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

O'Shea SJ et al.

Human Molecular Genetics, 2017

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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."