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.G560D

c.1679G>A

Surrounding Variants

1 paper

NM_004656.4

p.G560S

c.1678G>A

2 papers

NM_004656.4

p.G560insFs

c.1679dupG

1 paper

NM_004656.4

p.G560fs

c.1678_1679fs

3 papers

NM_004656.4

p.L561fs

c.1681_1682fs

1 paper

NM_004656.4

p.L561L

c.1681C>T

2 papers

NM_004656.4

p.G560delFs

c.1680delG

1 paper

NM_004656.4

p.T559K

c.1676C>A

1 paper

NM_004656.4

p.L561fs

c.1681_1682fs

1 paper

NM_004656.4

p.V556_S558del3

c.1666_1673del9

1 paper

NM_004656.4

p.S558S

c.1674C>T

1 paper

NM_004656.4

p.T559_L561del3

c.1675_1682del9

1 paper

NM_004656.4

p.I557_L562delFs

c.1671_1684del14