Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.N78Y
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BAP1

NM_004656.4:p.N78Y

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_a

Genetic Alterations in Renal Cancers: Identification of The Mechanisms Underlying Cancer Initiation and Progression and of Therapeutic Targets.

Testa U et al.

Medicines (basel, Switzerland), 2020

Prognostic impact of chromosomal aberrations and GNAQ, GNA11 and BAP1 mutations in uveal melanoma.

Staby KM et al.

Acta Ophthalmologica, 2018

Loss of BAP1 expression is associated with genetic mutation and can predict outcomes in gallbladder cancer.

Hirosawa T et al.

Plos One, 2018

Sporadic Early-Onset Diffuse Gastric Cancers Have High Frequency of Somatic CDH1 Alterations, but Low Frequency of Somatic RHOA Mutations Compared With Late-Onset Cancers.

Cho SY et al.

Gastroenterology, 2017

An integrated computational approach can classify VHL missense mutations according to risk of clear cell renal carcinoma.

Gossage L et al.

Human Molecular Genetics, 2014

24969085 (PubMed )
Supplement: supp_ddu321_ddu321supp.docx

AlphaMissense Predictions and ClinVar Annotations: A Deep Learning Approach to Uveal Melanoma.

Taylor Gonzalez DJ et al.

Ophthalmology Science, 0

40114711 (PubMed )
Supplement: mmc1.docx
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