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.Y173delFs

c.517delA

Surrounding Variants

1 paper

NM_004656.4

p.Y173F

c.518A>T

34 papers

NM_004656.4

p.Y173C

c.518A>G

5 papers

NM_004656.4

p.Y173S

c.518A>C

1 paper

NM_004656.4

p.Y173insFs

c.517dupT

1 paper

NM_004656.4

p.Y173_V174insFs

c.519_520insA

6 papers

NM_004656.4

p.Y173*

c.519T>G

1 paper

NM_004656.4

p.Y173D

c.517T>G

2 papers

NM_004656.4

p.Y173Y

c.519T>C

2 papers

NM_004656.4

p.Y173H

c.517T>C

6 papers

NM_004656.4

p.Y173*

c.519T>A

1 paper

NM_004656.4

p.Y173N

c.517T>A

1 paper

NM_004656.4

p.S172delFs

c.516delG