Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.G194Splc
Back to variants list

BAP1

NM_004656.4:p.G194Splc

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

Characterization of somatic mutations in sporadic uveal melanoma and uveal melanoma in patients with germline BAP1 pathogenic variants.

Wadt KAW et al.

Plos One, 2024

39378214 (PubMed )
Supplement: pone.0306386.s001.xlsx › Ark2

Identification of Survival-Specific Genes in Clear Cell Renal Cell Carcinoma Using a Customized Next-Generation Sequencing Gene Panel.

Hwang J et al.

Journal of Personalized Medicine, 2022

Phase 2 Study of Olaparib in Malignant Mesothelioma and Correlation of Efficacy With Germline or Somatic Mutations in BAP1 Gene.

Ghafoor A et al.

Jto Clinical and Research Reports, 2021

Molecular profiling of driver events in metastatic uveal melanoma.

Karlsson J et al.

Nature Communications, 2020

32313009 (PubMed )
Supplement: 41467_2020_15606_MOESM4_ESM.xlsx › All_variants

Genotypic and Phenotypic Features of BAP1 Cancer Syndrome: A Report of 8 New Families and Review of Cases in the Literature.

Haugh AM et al.

Jama Dermatology, 2017

Genetics of familial melanoma: 20 years after CDKN2A.

Aoude LG et al.

Pigment Cell & Melanoma Research, 2015

The Importance of Multidisciplinary Approach in Early Detection of BAP1 Tumor Predisposition Syndrome: Clinical Management and Risk Assessment.

Battaglia A

Clinical Medicine Insights. Oncology, 2014

A BAP1 mutation in a Danish family predisposes to uveal melanoma and other cancers.

Aoude LG et al.

Plos One, 2013

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."