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.G686Splc

c.2056+11G>A

Surrounding Variants

1 paper

NM_004656.4

p.G686Splc

c.2056+12C>T

1 paper

NM_004656.4

p.G686Splc

c.2056+13G>A

1 paper

NM_004656.4

p.G686Splc

c.2056+14C>T

1 paper

NM_004656.4

p.G686Splc

c.2056+15T>C

1 paper

NM_004656.4

p.G686Splc

c.2056+15T>A

1 paper

NM_004656.4

p.G686Splc

c.2056+7G>A

1 paper

NM_004656.4

p.G686Splc

c.2056+16G>T

1 paper

NM_004656.4

p.G686Splc

c.2056+16G>A

1 paper

NM_004656.4

p.G686Splc

c.2056+18T>C

1 paper

NM_004656.4

p.G686Splc

c.2056+19G>A

1 paper

NM_004656.4

p.G686Splc

c.2056+3G>A

1 paper

NM_004656.4

p.G686Splc

c.2056+1G>T