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.E182delins

c.545_546delinsCC

Surrounding Variants

7 papers

NM_004656.4

p.E182D

c.546G>T

7 papers

NM_004656.4

p.E182D

c.546G>C

1 paper

NM_004656.4

p.E182E

c.546G>A

1 paper

NM_004656.4

p.E182delFs

c.545delT

1 paper

NM_004656.4

p.E182delins

c.544_546delinsTGA

1 paper

NM_004656.4

p.L183L

c.547C>T

1 paper

NM_004656.4

p.L183V

c.547C>G

1 paper

NM_004656.4

p.L183M

c.547C>A

1 paper

NM_004656.4

p.E182delFs

c.546delC

1 paper

NM_004656.4

p.E182del1

c.544_546delCTC

3 papers

NM_004656.4

p.E182V

c.545A>T

3 papers

NM_004656.4

p.E182G

c.545A>G