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.I76N

c.227T>A

Surrounding Variants

1 paper

NM_004656.4

p.I76S

c.227T>G

4 papers

NM_004656.4

p.I76T

c.227T>C

1 paper

NM_004656.4

p.I76fs

c.226_227fs

1 paper

NM_004656.4

p.I76M

c.228T>G

1 paper

NM_004656.4

p.I76I

c.228T>C

1 paper

NM_004656.4

p.I76I

c.228T>A

2 papers

NM_004656.4

p.D68_I76delFs

c.202_227del26

1 paper

NM_004656.4

p.I76F

c.226A>T

1 paper

NM_004656.4

p.I76V

c.226A>G

1 paper

NM_004656.4

p.I76L

c.226A>C

1 paper

NM_004656.4

p.D75del1

c.223_224delATC

2 papers

NM_004656.4

p.D73_D75del3

c.217_224del9