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.V188V

c.564C>A

Surrounding Variants

1 paper

NM_004656.4

p.V188V

c.564C>T

1 paper

NM_004656.4

p.V188V

c.564C>G

1 paper

NM_004656.4

p.V188fs

c.562_563fs

1 paper

NM_004656.4

p.V188delFs

c.563delA

1 paper

NM_004656.4

p.V188delins

c.562_564delinsTGA

1 paper

NM_004656.4

p.Y189D

c.565T>G

1 paper

NM_004656.4

p.V188G

c.563T>G

3 papers

NM_004656.4

p.V188A

c.563T>C

1 paper

NM_004656.4

p.Y189H

c.565T>C

1 paper

NM_004656.4

p.Y189N

c.565T>A

1 paper

NM_004656.4

p.V188D

c.563T>A

1 paper

NM_004656.4

p.V188delFs

c.562delC