Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.C91R
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BAP1

NM_004656.4:p.C91R

Associated Papers

An overview of BAP1 biological functions and current therapeutics.

Elsayed AM et al.

Biochimica Et Biophysica Acta. Reviews on Cancer, 2025

Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.

Gimeno AF et al.

American Journal of Medical Genetics. Part A, 2025

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

Waters AJ et al.

Nature Genetics, 2024

BRCA1-associated protein 1: Tumor predisposition syndrome and Kury-Isidor syndrome, from genotype-phenotype correlation to clinical management.

West EC et al.

Clinical Genetics, 2024

Structural basis of histone H2A lysine 119 deubiquitination by Polycomb repressive deubiquitinase BAP1/ASXL1.

Thomas JF et al.

Science Advances, 2023

37556531 (PubMed )
Supplement: sciadv.adg9832_sm.pdf

Structural basis of histone H2A lysine 119 deubiquitination by Polycomb Repressive Deubiquitinase BAP1/ASXL1.

Thomas JF et al.

Biorxiv : the Preprint Server for Biology, 2023

36865140 (PubMed )
Supplement: NIHPP2023.02.23.529554v1-supplement-1.pdf

Whole-exome sequencing in eccrine porocarcinoma indicates promising therapeutic strategies.

Denisova E et al.

Cancer Gene Therapy, 2022

34045664 (PubMed )
Supplement: 41417_2021_347_MOESM4_ESM.xls › C000-JMUDMJ

Proteomic analysis identifies novel binding partners of BAP1.

Baas R et al.

Plos One, 2021

Phase and context shape the function of composite oncogenic mutations.

Gorelick AN et al.

Nature, 2020

32461694 (PubMed )
Supplement: NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx › Table_S2._Composite_mutations

Computational analysis of the mutations in BAP1, PBRM1 and SETD2 genes reveals the impaired molecular processes in renal cell carcinoma.

Piva F et al.

Oncotarget, 2015

26452128 (PubMed )
Supplement: oncotarget-06-32161-s002.xls › Predictions
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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."