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.T668T

c.2004C>T

Surrounding Variants

1 paper

NM_004656.4

p.T668fs

c.2002_2003fs

1 paper

NM_004656.4

p.H669insFs

c.2005_2006insA

1 paper

NM_004656.4

p.H669N

c.2005C>A

2 papers

NM_004656.4

p.R667del1

c.1999_2000delCCT

1 paper

NM_004656.4

p.H669fs

c.2005_2006fs

2 papers

NM_004656.4

p.T668fs

c.2002_2003fs

2 papers

NM_004656.4

p.R667delFs

c.2001delC

1 paper

NM_004656.4

p.R666_H669del0

c.1997_2005del9

2 papers

NM_004656.4

p.R667S

c.2001G>T

1 paper

NM_004656.4

p.R667S

c.2001G>C

1 paper

NM_004656.4

p.R666_R667del1

c.1998_2000delCTT

1 paper

NM_004656.4

p.H669fs

c.2005_2006fs