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

2 papers

NM_004656.4

p.Y173H

c.517T>C

Surrounding Variants

1 paper

NM_004656.4

p.Y173D

c.517T>G

1 paper

NM_004656.4

p.Y173N

c.517T>A

1 paper

NM_004656.4

p.S172delFs

c.516delG

1 paper

NM_004656.4

p.S172del1

c.514_516delGCT

2 papers

NM_004656.4

p.Y173fs

c.517_518fs

1 paper

NM_004656.4

p.S172S

c.516C>T

12 papers

NM_004656.4

p.S172R

c.516C>G

11 papers

NM_004656.4

p.S172R

c.516C>A

1 paper

NM_004656.4

p.S172delFs

c.515delC

1 paper

NM_004656.4

p.S172delins

c.514_516delinsTGA

2 papers

NM_004656.4

p.N157_S172delFs

c.469_515del47

1 paper

NM_004656.4

p.Y173F

c.518A>T