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.R59R

c.177G>C

Surrounding Variants

1 paper

NM_004656.4

p.R59R

c.177G>T

6 papers

NM_004656.4

p.R59fs

c.175_176fs

2 papers

NM_004656.4

p.R59R

c.177G>A

1 paper

NM_004656.4

p.R59delFs

c.175_176delCG

1 paper

NM_004656.4

p.R56_S58del3

c.166_173del9

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

46 papers

NM_004656.4

p.R60*

c.178C>T

1 paper

NM_004656.4

p.R60G

c.178C>G

1 paper

NM_004656.4

p.R60R

c.178C>A