Varaico: Literature-Extracted Genetic Variants

Gene:BAP1
Variant:p.E454fs
Back to variants list

BAP1

NM_004656.4:p.E454fs

Associated Papers

First Report of BAP1-Associated Polyposis.

Jacobson AL et al.

American Journal of Medical Genetics. Part A, 2025

Driver mutations of intrahepatic cholangiocarcinoma shape clinically relevant genomic clusters with distinct molecular features and therapeutic vulnerabilities.

Wang XY et al.

Theranostics, 2022

34987644 (PubMed )
Supplement: thnov12p0260s1.pdf

Integrative Genomic Analysis of Cholangiocarcinoma Identifies Distinct IDH-Mutant Molecular Profiles.

Farshidfar F et al.

Cell Reports, 2017

28297679 (PubMed )
Supplement: NIHMS866722-supplement-2.xlsx › ST2._Validation_Gene_Mutations

Mutation profiling in cholangiocarcinoma: prognostic and therapeutic implications.

Churi CR et al.

Plos One, 2014

25536104 (PubMed )
Supplement: pone.0115383.s001.xlsx › Sheet_1
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."