Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.W202*
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BAP1

NM_004656.4:p.W202*

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_MOESM7_ESM.xlsx › Supplementary_Table_4

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

Two unique BAP1 pathogenic variants identified in the same family by panel cascade testing.

Byrne L et al.

Familial Cancer, 2023

Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup.

Bruno W et al.

Esmo Open, 2022

Diagnostics of BAP1-Tumor Predisposition Syndrome by a Multitesting Approach: A Ten-Year-Long Experience.

Sculco M et al.

Diagnostics (basel, Switzerland), 2022

Risk prediction for metastasis of clear cell renal cell carcinoma using digital multiplex ligation-dependent probe amplification.

Yoshikawa Y et al.

Cancer Science, 2022

34687579 (PubMed )
Supplement: CAS-113-297-s001.xlsx › Table_S3

Genetic alterations of malignant pleural mesothelioma: association with tumor heterogeneity and overall survival.

Quetel L et al.

Molecular Oncology, 2020

32083805 (PubMed )
Supplement: MOL2-14-1207-s005.xlsx › Table_S4

Feasibility and utility of a panel testing for 114 cancer-associated genes in a clinical setting: A hospital-based study.

Sunami K et al.

Cancer Science, 2019

30742731 (PubMed )
Supplement: CAS-110-1480-s003.xlsx › Table_S3

High-density array-CGH with targeted NGS unmask multiple noncontiguous minute deletions on chromosome 3p21 in mesothelioma.

Yoshikawa Y et al.

Proceedings of the National Academy of Sciences of the United States of America, 2016

Genomic profiling of the genes on chromosome 3p in sporadic clear cell renal cell carcinoma.

Togo Y et al.

International Journal of Oncology, 2016

Biallelic germline and somatic mutations in malignant mesothelioma: multiple mutations in transcription regulators including mSWI/SNF genes.

Yoshikawa Y et al.

International Journal of Cancer, 2015

[Acne caused by chloronaphthol].

SENRA J

Actas Dermo-sifiliograficas, 1955

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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."