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

3 papers

NM_004656.4

p.R56H

c.167G>A

Surrounding Variants

1 paper

NM_004656.4

p.R56L

c.167G>T

1 paper

NM_004656.4

p.R56P

c.167G>C

11 papers

NM_004656.4

p.R56C

c.166C>T

1 paper

NM_004656.4

p.R56R

c.168C>T

1 paper

NM_004656.4

p.R56R

c.168C>G

1 paper

NM_004656.4

p.R56G

c.166C>G

3 papers

NM_004656.4

p.R56fs

c.166_167fs

1 paper

NM_004656.4

p.R56insFs

c.166_167insA

1 paper

NM_004656.4

p.R56R

c.168C>A

1 paper

NM_004656.4

p.R56S

c.166C>A

1 paper

NM_004656.4

p.E55delFs

c.165delC

2 papers

NM_004656.4

p.E54_R56delFs

c.161_167del7