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

4 papers

NM_004656.4

p.D672N

c.2014G>A

Surrounding Variants

2 papers

NM_004656.4

p.D672fs

c.2014_2015fs

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

10 papers

NM_004656.4

p.D672G

c.2015A>G

1 paper

NM_004656.4

p.D672insFs

c.2015_2016insT

1 paper

NM_004656.4

p.D672fs

c.2014_2015fs

1 paper

NM_004656.4

p.D672D

c.2016T>C

1 paper

NM_004656.4

p.D672E

c.2016T>A