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.R179G

c.535C>G

Surrounding Variants

16 papers

NM_004656.4

p.R179W

c.535C>T

1 paper

NM_004656.4

p.R179R

c.535C>A

1 paper

NM_004656.4

p.G178del1

c.532_534delGCC

1 paper

NM_004656.4

p.R179L

c.536G>T

1 paper

NM_004656.4

p.R179P

c.536G>C

1 paper

NM_004656.4

p.R179Q

c.536G>A

1 paper

NM_004656.4

p.R179delFs

c.535delG

4 papers

NM_004656.4

p.G178G

c.534C>T

1 paper

NM_004656.4

p.G178G

c.534C>G

1 paper

NM_004656.4

p.G178G

c.534C>A

1 paper

NM_004656.4

p.G178delFs

c.533delC

1 paper

NM_004656.4

p.G178delins

c.532_534delinsTGA