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.I176F

c.526A>T

Surrounding Variants

1 paper

NM_004656.4

p.I176fs

c.526_527fs

2 papers

NM_004656.4

p.I176V

c.526A>G

1 paper

NM_004656.4

p.I176L

c.526A>C

1 paper

NM_004656.4

p.P175delFs

c.525delA

1 paper

NM_004656.4

p.P175del1

c.523_525delAGG

1 paper

NM_004656.4

p.V174_P175del0

c.520_525del6

1 paper

NM_004656.4

p.I176S

c.527T>G

1 paper

NM_004656.4

p.P175P

c.525T>G

1 paper

NM_004656.4

p.I176T

c.527T>C

1 paper

NM_004656.4

p.P175P

c.525T>C

1 paper

NM_004656.4

p.I176N

c.527T>A

1 paper

NM_004656.4

p.P175P

c.525T>A