BAP1
CIViC ID: 70 · Entrez: 8314
Aliases: HUCEP-13,UCHL2,hucep-6,BAP1,KURIS,TPDS1,UVM2,UBM2
Description
BAP1 is a deubiquitylase thought to be a key regulator of many cancer-associated pathways. Germline alterations in BAP1 have been characterized as predisposing variants to familial melanocytic skin tumors. These alterations also have been linked to the development of mesothelioma, uveal melanoma, cutaneous melanoma and others. Clinically, the role of BAP1 is still being investigated. However, the development of intradermal tumors known as melanocytic BAP1-associated intradermal tumors (MBAITs) are enough for a patient to be subject to more intense surveillance to catch other malignancies as early as possible.
Cyan = gene · Slate = variant · Green = drug · Click variant to filter table
Variants (5)
| CIViC ID | Name | HGVS | Type(s) |
|---|---|---|---|
| 2211 | ALTERNATIVE TRANSCRIPT (ATI) | ||
| 182 | EXPRESSION | ||
| 2212 | Loss | ||
| 5118 | Loss-of-function | ||
| 183 | Mutation | protein_altering_variant,loss_of_function_variant |