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

5 papers

NM_004656.4

p.Q441*

c.1321C>T

Surrounding Variants

1 paper

NM_004656.4

p.L440L

c.1320G>A

1 paper

NM_004656.4

p.S438_L440delFs

c.1313_1319del7

3 papers

NM_004656.4

p.L440insFs

c.1319_1320insA

1 paper

NM_004656.4

p.Q441Q

c.1323G>A

1 paper

NM_004656.4

p.D434_Q441del0

c.1302_1322del21

2 papers

NM_004656.4

p.L440L

c.1318C>T

1 paper

NM_004656.4

p.P442_N443insA

c.1324_1328ins3

1 paper

NM_004656.4

p.V439_Q441del3

c.1315_1322del9

1 paper

NM_004656.4

p.V439V

c.1317G>T

1 paper

NM_004656.4

p.V439V

c.1317G>C

2 papers

NM_004656.4

p.P442R

c.1325C>G

1 paper

NM_004656.4

p.Q441del1

c.1321_1322delCTG