Varaico: Literature-Extracted Genetic Variants

BAP1

1,324 papers

RefSeq Summary

This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer...

Pfam Domains

Peptidase_C12aa 5–215UCSCUbiquitin carboxyl-terminal hydrolase, family 1

UCH_Caa 643–688UCSCUbiquitin carboxyl-terminal hydrolases

Gene Aliases

HGNC Name

BRCA1 associated deubiquitinase 1

HGNC Alias Symbols

hucep-6; KIAA0272; UCHL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004656.4

p.G424_K425delFs

c.1272_1273delTC

Surrounding Variants

1 paper

NM_004656.4

p.K425T

c.1274A>C

4 papers

NM_004656.4

p.K425fs

c.1273_1274fs

3 papers

NM_004656.4

p.K425fs

c.1273_1274fs

1 paper

NM_004656.4

p.T423_K425delFs

c.1268_1274del7

1 paper

NM_004656.4

p.K425*

c.1273A>T

1 paper

NM_004656.4

p.G422_G424insFs

c.1265_1272dup8

1 paper

NM_004656.4

p.G424delFs

c.1272delC

2 papers

NM_004656.4

p.G424_K425delFs

c.1271_1274del4

1 paper

NM_004656.4

p.G424A

c.1271G>C

1 paper

NM_004656.4

p.K419_T423delFs

c.1256_1269del14

1 paper

NM_004656.4

p.P426delFs

c.1277delG

1 paper

NM_004656.4

p.G427_A428insC

c.1279_1283ins3