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.V530_E534delFs

c.1588_1600del13

Surrounding Variants

2 papers

NM_004656.4

p.E534A

c.1601A>C

1 paper

NM_004656.4

p.E534E

c.1602G>A

1 paper

NM_004656.4

p.S525_G533delFs

c.1574_1599del26

1 paper

NM_004656.4

p.F532_E534del3

c.1594_1601del9

1 paper

NM_004656.4

p.G533G

c.1599A>T

1 paper

NM_004656.4

p.G533G

c.1599A>G

3 papers

NM_004656.4

p.G533fs

c.1597_1598fs

1 paper

NM_004656.4

p.G533delFs

c.1598delC

1 paper

NM_004656.4

p.G533A

c.1598G>C

1 paper

NM_004656.4

p.D535G

c.1604A>G

2 papers

NM_004656.4

p.D535fs

c.1603_1604fs

1 paper

NM_004656.4

p.D535E

c.1605T>G