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.Y189del1

c.565_567delGTA

Surrounding Variants

2 papers

NM_004656.4

p.P190S

c.568C>T

1 paper

NM_004656.4

p.P190A

c.568C>G

1 paper

NM_004656.4

p.P190T

c.568C>A

1 paper

NM_004656.4

p.P190fs

c.568_569fs

1 paper

NM_004656.4

p.T177_Y189del0

c.529_567del39

1 paper

NM_004656.4

p.P190L

c.569C>T

1 paper

NM_004656.4

p.Y189Y

c.567C>T

4 papers

NM_004656.4

p.P190R

c.569C>G

1 paper

NM_004656.4

p.Y189*

c.567C>G

3 papers

NM_004656.4

p.P190H

c.569C>A

1 paper

NM_004656.4

p.Y189*

c.567C>A

1 paper

NM_004656.4

p.P190Fs

c.568_569delinsTFs