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.S98I

c.293G>T

Surrounding Variants

3 papers

NM_004656.4

p.S98S

c.294C>T

9 papers

NM_004656.4

p.S98R

c.294C>G

1 paper

NM_004656.4

p.S98fs

c.292_293fs

9 papers

NM_004656.4

p.S98R

c.294C>A

1 paper

NM_004656.4

p.S98delFs

c.293delC

1 paper

NM_004656.4

p.S98fs

c.292_293fs

1 paper

NM_004656.4

p.L97_S98delFs

c.290_293del4

9 papers

NM_004656.4

p.S98R

c.292A>C

1 paper

NM_004656.4

p.L97L

c.291G>T

1 paper

NM_004656.4

p.L97fs

c.289_290fs

1 paper

NM_004656.4

p.L97L

c.291G>C

9 papers

NM_004656.4

p.V99M

c.295G>A