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

2 papers

NM_004656.4

p.A428fs

c.1282_1283fs

Surrounding Variants

1 paper

NM_004656.4

p.L429insFs

c.1285_1286insC

1 paper

NM_004656.4

p.L429L

c.1285T>C

1 paper

NM_004656.4

p.A428V

c.1283C>T

1 paper

NM_004656.4

p.A428G

c.1283C>G

1 paper

NM_004656.4

p.G427insFs

c.1281dupG

1 paper

NM_004656.4

p.A428E

c.1283C>A

1 paper

NM_004656.4

p.A428delFs

c.1282delC

1 paper

NM_004656.4

p.L429W

c.1286T>G

1 paper

NM_004656.4

p.A428S

c.1282G>T

1 paper

NM_004656.4

p.A428P

c.1282G>C

2 papers

NM_004656.4

p.A428T

c.1282G>A

1 paper

NM_004656.4

p.L429L

c.1287G>A