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.V550V

c.1650C>A

Surrounding Variants

1 paper

NM_004656.4

p.V550delFs

c.1649delA

6 papers

NM_004656.4

p.R551C

c.1651C>T

1 paper

NM_004656.4

p.R551G

c.1651C>G

1 paper

NM_004656.4

p.R551S

c.1651C>A

1 paper

NM_004656.4

p.R551L

c.1652G>T

1 paper

NM_004656.4

p.R551P

c.1652G>C

3 papers

NM_004656.4

p.R551H

c.1652G>A

1 paper

NM_004656.4

p.V550I

c.1648G>A

2 papers

NM_004656.4

p.A549delFs

c.1647delA

1 paper

NM_004656.4

p.N547_A549del3

c.1639_1646del9

3 papers

NM_004656.4

p.V550fs

c.1648_1649fs

1 paper

NM_004656.4

p.R551R

c.1653T>C