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.L183delins

c.547_549delinsTGA

Surrounding Variants

1 paper

NM_004656.4

p.L183L

c.549G>T

1 paper

NM_004656.4

p.L183L

c.549G>C

1 paper

NM_004656.4

p.L183L

c.549G>A

1 paper

NM_004656.4

p.L183delFs

c.548delA

1 paper

NM_004656.4

p.L183delins

c.547_549delinsGCC

2 papers

NM_004656.4

p.L183R

c.548T>G

1 paper

NM_004656.4

p.L183P

c.548T>C

1 paper

NM_004656.4

p.L183Q

c.548T>A

1 paper

NM_004656.4

p.L183delFs

c.547delG

4 papers

NM_004656.4

p.D184Y

c.550G>T

2 papers

NM_004656.4

p.D184H

c.550G>C

2 papers

NM_004656.4

p.D184N

c.550G>A