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.I461insFs

c.1383dupT

Surrounding Variants

1 paper

NM_004656.4

p.P462fs

c.1384_1385fs

3 papers

NM_004656.4

p.P462S

c.1384C>T

1 paper

NM_004656.4

p.P462R

c.1385C>G

1 paper

NM_004656.4

p.P462H

c.1385C>A

1 paper

NM_004656.4

p.P462fs

c.1384_1385fs

1 paper

NM_004656.4

p.S455_I461delFs

c.1363_1382del20

1 paper

NM_004656.4

p.I461delFs

c.1381delT

1 paper

NM_004656.4

p.L463L

c.1387C>T

3 papers

NM_004656.4

p.L463V

c.1387C>G

1 paper

NM_004656.4

p.S460_P462del3

c.1378_1385del9

1 paper

NM_004656.4

p.L459_L463delFs

c.1375_1387del13

1 paper

NM_004656.4

p.S460S

c.1380A>T