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.G686C

c.2056G>T

Surrounding Variants

1 paper

NM_004656.4

p.G686S

c.2056G>A

1 paper

NM_004656.4

p.E685delFs

c.2055delT

1 paper

NM_004656.4

p.I679_E685delFs

c.2036_2055del20

1 paper

NM_004656.4

p.G686Splc

c.2056+1G>T

4 papers

NM_004656.4

p.G686Splc

c.2056+1G>C

2 papers

NM_004656.4

p.G686Splc

c.2056+1G>A

1 paper

NM_004656.4

p.E685E

c.2055A>G

15 papers

NM_004656.4

p.E685V

c.2054A>T

1 paper

NM_004656.4

p.G686Splc

c.2056+3G>A

1 paper

NM_004656.4

p.Q684fs

c.2050_2051fs

1 paper

NM_004656.4

p.Q684insFs

c.2051dupA

2 papers

NM_004656.4

p.Q684delFs

c.2051delT