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.L216fs

c.646_647fs

Surrounding Variants

1 paper

NM_004656.4

p.G215delFs

c.645delG

1 paper

NM_004656.4

p.A217S

c.649G>T

1 paper

NM_004656.4

p.A217P

c.649G>C

2 papers

NM_004656.4

p.A217T

c.649G>A

1 paper

NM_004656.4

p.A217fs

c.649_650fs

3 papers

NM_004656.4

p.A217V

c.650C>T

1 paper

NM_004656.4

p.A217G

c.650C>G

1 paper

NM_004656.4

p.A217D

c.650C>A

3 papers

NM_004656.4

p.A217A

c.651C>T

1 paper

NM_004656.4

p.G215D

c.644G>A

1 paper

NM_004656.4

p.T218S

c.652A>T

1 paper

NM_004656.4

p.T218A

c.652A>G