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.I557_L562delFs

c.1671_1684del14

Surrounding Variants

1 paper

NM_004656.4

p.L562L

c.1686G>A

1 paper

NM_004656.4

p.T559_L561del3

c.1675_1682del9

1 paper

NM_004656.4

p.L561fs

c.1681_1682fs

1 paper

NM_004656.4

p.H563Y

c.1687C>T

2 papers

NM_004656.4

p.G560delFs

c.1680delG

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.H563Q

c.1689C>G

2 papers

NM_004656.4

p.H563fs

c.1687_1688fs

3 papers

NM_004656.4

p.H563Q

c.1689C>A

2 papers

NM_004656.4

p.L564L

c.1690C>T

2 papers

NM_004656.4

p.G560insFs

c.1679dupG