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.I72F

c.214A>T

Surrounding Variants

2 papers

NM_004656.4

p.I72fs

c.214_215fs

1 paper

NM_004656.4

p.I72V

c.214A>G

1 paper

NM_004656.4

p.I72L

c.214A>C

1 paper

NM_004656.4

p.I72insFs

c.214_215insCT

1 paper

NM_004656.4

p.I72insFs

c.215_216insC

1 paper

NM_004656.4

p.I72S

c.215T>G

2 papers

NM_004656.4

p.I72T

c.215T>C

1 paper

NM_004656.4

p.I72N

c.215T>A

1 paper

NM_004656.4

p.I72delFs

c.214delT

1 paper

NM_004656.4

p.V71_I72delFs

c.211_214del4

1 paper

NM_004656.4

p.V71V

c.213G>T

1 paper

NM_004656.4

p.V71_I72insFs

c.213_214insT