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.K529_L531del3

c.1585_1592del9

Surrounding Variants

1 paper

NM_004656.4

p.K529_F532Fs

c.1587_1594delinsCACACCTCCCACAFs

1 paper

NM_004656.4

p.F532fs

c.1594_1595fs

1 paper

NM_004656.4

p.P522_V530del9

c.1564_1589del27

1 paper

NM_004656.4

p.G533A

c.1598G>C

2 papers

NM_004656.4

p.V530V

c.1590G>A

3 papers

NM_004656.4

p.V530delFs

c.1588delC

1 paper

NM_004656.4

p.G533G

c.1599A>T

1 paper

NM_004656.4

p.G533G

c.1599A>G

3 papers

NM_004656.4

p.G533fs

c.1597_1598fs

1 paper

NM_004656.4

p.G533delFs

c.1598delC

2 papers

NM_004656.4

p.V530insFs

c.1588_1589insC

1 paper

NM_004656.4

p.V530M

c.1588G>A