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.S172_Y173del2

c.514_518del6

Surrounding Variants

2 papers

NM_004656.4

p.V174L

c.520G>T

1 paper

NM_004656.4

p.V174_P175ins4

c.520_524ins12

1 paper

NM_004656.4

p.V174L

c.520G>C

1 paper

NM_004656.4

p.V174M

c.520G>A

1 paper

NM_004656.4

p.Y173delFs

c.519delA

1 paper

NM_004656.4

p.Y173del1

c.517_519delATA

1 paper

NM_004656.4

p.S160_Y173del14

c.478_518del42

1 paper

NM_004656.4

p.Y173_V174insFs

c.519_520insA

6 papers

NM_004656.4

p.Y173*

c.519T>G

2 papers

NM_004656.4

p.V174G

c.521T>G

2 papers

NM_004656.4

p.Y173Y

c.519T>C

1 paper

NM_004656.4

p.V174A

c.521T>C