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.L459P

c.1376T>C

Surrounding Variants

1 paper

NM_004656.4

p.L459fs

c.1375_1376fs

1 paper

NM_004656.4

p.D458_L459del2

c.1372_1376del6

1 paper

NM_004656.4

p.K457_L459del3

c.1369_1376del9

1 paper

NM_004656.4

p.D458E

c.1374C>G

1 paper

NM_004656.4

p.D458E

c.1374C>A

1 paper

NM_004656.4

p.D458delFs

c.1373delT

16 papers

NM_004656.4

p.S460*

c.1379C>G

15 papers

NM_004656.4

p.S460*

c.1379C>A

1 paper

NM_004656.4

p.D458V

c.1373A>T

1 paper

NM_004656.4

p.D458G

c.1373A>G

1 paper

NM_004656.4

p.D458A

c.1373A>C

1 paper

NM_004656.4

p.D458Y

c.1372G>T