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.S525S

c.1575C>T

Surrounding Variants

1 paper

NM_004656.4

p.S525S

c.1575C>G

1 paper

NM_004656.4

p.S525fs

c.1573_1574fs

2 papers

NM_004656.4

p.H526Y

c.1576C>T

2 papers

NM_004656.4

p.S525C

c.1574C>G

1 paper

NM_004656.4

p.V523_S525del3

c.1567_1574del9

1 paper

NM_004656.4

p.S520_S525del6

c.1558_1574del18

1 paper

NM_004656.4

p.H526H

c.1578C>T

1 paper

NM_004656.4

p.T524T

c.1572C>T

1 paper

NM_004656.4

p.H526Q

c.1578C>G

1 paper

NM_004656.4

p.H526Q

c.1578C>A

1 paper

NM_004656.4

p.I527V

c.1579A>G

2 papers

NM_004656.4

p.I527insFs

c.1579_1580insA