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.D107V

c.320A>T

Surrounding Variants

1 paper

NM_004656.4

p.D107G

c.320A>G

1 paper

NM_004656.4

p.D107A

c.320A>C

1 paper

NM_004656.4

p.D107Y

c.319G>T

1 paper

NM_004656.4

p.D107H

c.319G>C

1 paper

NM_004656.4

p.D107N

c.319G>A

1 paper

NM_004656.4

p.S104_V106del3

c.310_317del9

1 paper

NM_004656.4

p.D107D

c.321C>T

2 papers

NM_004656.4

p.D107E

c.321C>G

2 papers

NM_004656.4

p.D107E

c.321C>A

1 paper

NM_004656.4

p.D107delFs

c.320delT

2 papers

NM_004656.4

p.V106fs

c.316_317fs

1 paper

NM_004656.4

p.V106delFs

c.317delA