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.S58P

c.172T>C

Surrounding Variants

3 papers

NM_004656.4

p.S58_R59insTG

c.172_176ins6

1 paper

NM_004656.4

p.S58A

c.172T>G

1 paper

NM_004656.4

p.S58T

c.172T>A

1 paper

NM_004656.4

p.R57delFs

c.170delC

3 papers

NM_004656.4

p.S58fs

c.172_173fs

1 paper

NM_004656.4

p.R57R

c.171G>T

1 paper

NM_004656.4

p.R57fs

c.169_170fs

1 paper

NM_004656.4

p.R57R

c.171G>C

1 paper

NM_004656.4

p.R57R

c.171G>A

1 paper

NM_004656.4

p.S58F

c.173C>T

1 paper

NM_004656.4

p.S58C

c.173C>G

1 paper

NM_004656.4

p.S58Y

c.173C>A