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.I557M

c.1671C>G

Surrounding Variants

1 paper

NM_004656.4

p.I557I

c.1671C>T

1 paper

NM_004656.4

p.I557I

c.1671C>A

1 paper

NM_004656.4

p.I557N

c.1670T>A

1 paper

NM_004656.4

p.V556_I557delFs

c.1666_1669del4

1 paper

NM_004656.4

p.S558fs

c.1672_1673fs

1 paper

NM_004656.4

p.S558G

c.1672A>G

1 paper

NM_004656.4

p.S558delFs

c.1672delT

2 papers

NM_004656.4

p.I557V

c.1669A>G

1 paper

NM_004656.4

p.S558S

c.1674C>T

1 paper

NM_004656.4

p.V556V

c.1668C>T

1 paper

NM_004656.4

p.V556fs

c.1666_1667fs

1 paper

NM_004656.4

p.V556_S558del3

c.1666_1673del9