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.A449P

c.1345G>C

Surrounding Variants

2 papers

NM_004656.4

p.A449S

c.1345G>T

3 papers

NM_004656.4

p.A449T

c.1345G>A

1 paper

NM_004656.4

p.N446_L448del3

c.1336_1343del9

1 paper

NM_004656.4

p.L448L

c.1344G>A

1 paper

NM_004656.4

p.A449V

c.1346C>T

1 paper

NM_004656.4

p.A449G

c.1346C>G

1 paper

NM_004656.4

p.A449insFs

c.1346_1347insAC

1 paper

NM_004656.4

p.A449D

c.1346C>A

1 paper

NM_004656.4

p.A449A

c.1347T>A

1 paper

NM_004656.4

p.L448L

c.1342T>C

1 paper

NM_004656.4

p.E450*

c.1348G>T

3 papers

NM_004656.4

p.E450K

c.1348G>A