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.Y671fs

c.2011_2012fs

Surrounding Variants

1 paper

NM_004656.4

p.N670_Y671insFs

c.2010_2011insCC

1 paper

NM_004656.4

p.H669_N670insFs

c.2007_2010dup4

1 paper

NM_004656.4

p.N670K

c.2010C>G

1 paper

NM_004656.4

p.N670K

c.2010C>A

1 paper

NM_004656.4

p.Y671insFs

c.2011dupT

2 papers

NM_004656.4

p.Y671Y

c.2013C>T

3 papers

NM_004656.4

p.Y671*

c.2013C>G

1 paper

NM_004656.4

p.Y671fs

c.2011_2012fs

1 paper

NM_004656.4

p.Y671insFs

c.2012_2013insAA

3 papers

NM_004656.4

p.Y671*

c.2013C>A

1 paper

NM_004656.4

p.Y671delFs

c.2012delT

1 paper

NM_004656.4

p.N670I

c.2009A>T