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.G197G

c.591G>T

Surrounding Variants

1 paper

NM_004656.4

p.G197_E198ins1

c.591_592insCAG

1 paper

NM_004656.4

p.G197G

c.591G>C

1 paper

NM_004656.4

p.G197G

c.591G>A

9 papers

NM_004656.4

p.E198*

c.592G>T

1 paper

NM_004656.4

p.E198K

c.592G>A

1 paper

NM_004656.4

p.G197_E198Fs

c.591_592delinsAFs

1 paper

NM_004656.4

p.P195_G197del0

c.583_591del9

5 papers

NM_004656.4

p.E198fs

c.592_593fs

1 paper

NM_004656.4

p.G197R

c.589G>C

1 paper

NM_004656.4

p.G197R

c.589G>A

3 papers

NM_004656.4

p.E198insFs

c.592dupG

3 papers

NM_004656.4

p.E198delFs

c.592delC