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.V523insFs

c.1568_1569ins4

Surrounding Variants

1 paper

NM_004656.4

p.V523V

c.1569C>T

3 papers

NM_004656.4

p.V523fs

c.1567_1568fs

1 paper

NM_004656.4

p.V523V

c.1569C>A

1 paper

NM_004656.4

p.V523A

c.1568T>C

1 paper

NM_004656.4

p.V523I

c.1567G>A

2 papers

NM_004656.4

p.P522delFs

c.1565_1566delAG

1 paper

NM_004656.4

p.S520_P522del3

c.1558_1565del9

1 paper

NM_004656.4

p.P522fs

c.1564_1565fs

1 paper

NM_004656.4

p.P522P

c.1566T>C

1 paper

NM_004656.4

p.T524T

c.1572C>T

1 paper

NM_004656.4

p.P522L

c.1565C>T

2 papers

NM_004656.4

p.P522fs

c.1564_1565fs