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.L108L

c.324G>A

Surrounding Variants

3 papers

NM_004656.4

p.L108fs

c.322_323fs

1 paper

NM_004656.4

p.L108L

c.324G>C

1 paper

NM_004656.4

p.L108Q

c.323T>A

1 paper

NM_004656.4

p.G109*

c.325G>T

1 paper

NM_004656.4

p.L108delFs

c.323_324delCA

6 papers

NM_004656.4

p.G109V

c.326G>T

1 paper

NM_004656.4

p.G109E

c.326G>A

1 paper

NM_004656.4

p.V106_L108del3

c.316_323del9

1 paper

NM_004656.4

p.L108L

c.322C>T

1 paper

NM_004656.4

p.D107D

c.321C>T

2 papers

NM_004656.4

p.D107E

c.321C>G

2 papers

NM_004656.4

p.D107E

c.321C>A