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

2 papers

NM_004656.4

p.T177R

c.530C>G

Surrounding Variants

1 paper

NM_004656.4

p.T177I

c.530C>T

1 paper

NM_004656.4

p.T177K

c.530C>A

1 paper

NM_004656.4

p.T177delins

c.529_530delinsTG

1 paper

NM_004656.4

p.T177delFs

c.529delT

1 paper

NM_004656.4

p.I176_T177del1

c.527_529delTGA

1 paper

NM_004656.4

p.T177T

c.531A>T

1 paper

NM_004656.4

p.T177S

c.529A>T

1 paper

NM_004656.4

p.T177T

c.531A>G

1 paper

NM_004656.4

p.T177A

c.529A>G

1 paper

NM_004656.4

p.T177T

c.531A>C

1 paper

NM_004656.4

p.T177P

c.529A>C

1 paper

NM_004656.4

p.T177delFs

c.530delG