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

5 papers

NM_004656.4

p.R59W

c.175C>T

Surrounding Variants

2 papers

NM_004656.4

p.R59fs

c.175_176fs

1 paper

NM_004656.4

p.R59G

c.175C>G

1 paper

NM_004656.4

p.R59R

c.175C>A

1 paper

NM_004656.4

p.R59L

c.176G>T

3 papers

NM_004656.4

p.R59P

c.176G>C

7 papers

NM_004656.4

p.R59Q

c.176G>A

1 paper

NM_004656.4

p.R59delFs

c.175delG

1 paper

NM_004656.4

p.S58S

c.174C>T

1 paper

NM_004656.4

p.S58S

c.174C>G

1 paper

NM_004656.4

p.S58_R59insFs

c.174_175ins4

3 papers

NM_004656.4

p.S58fs

c.172_173fs

1 paper

NM_004656.4

p.S58S

c.174C>A