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.I47L

c.139A>C

Surrounding Variants

3 papers

NM_004656.4

p.I47fs

c.139_140fs

8 papers

NM_004656.4

p.I47F

c.139A>T

1 paper

NM_004656.4

p.I47V

c.139A>G

1 paper

NM_004656.4

p.I47insFs

c.140_141insG

1 paper

NM_004656.4

p.F46fs

c.136_137fs

1 paper

NM_004656.4

p.I47S

c.140T>G

1 paper

NM_004656.4

p.F46L

c.138T>G

1 paper

NM_004656.4

p.I47T

c.140T>C

1 paper

NM_004656.4

p.F46F

c.138T>C

1 paper

NM_004656.4

p.I47N

c.140T>A

1 paper

NM_004656.4

p.F46L

c.138T>A

1 paper

NM_004656.4

p.I47delFs

c.139delT