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

4 papers

NM_004656.4

p.V171fs

c.511_512fs

Surrounding Variants

1 paper

NM_004656.4

p.V171V

c.513C>T

1 paper

NM_004656.4

p.V171V

c.513C>G

1 paper

NM_004656.4

p.V171V

c.513C>A

3 papers

NM_004656.4

p.V171delFs

c.512delA

1 paper

NM_004656.4

p.V171delins

c.511_513delinsTGA

1 paper

NM_004656.4

p.V171G

c.512T>G

1 paper

NM_004656.4

p.V171A

c.512T>C

6 papers

NM_004656.4

p.V171D

c.512T>A

1 paper

NM_004656.4

p.V171delFs

c.511delC

1 paper

NM_004656.4

p.S172C

c.514A>T

1 paper

NM_004656.4

p.S172G

c.514A>G

11 papers

NM_004656.4

p.S172R

c.514A>C