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

2 papers

NM_004656.4

p.C91*

c.273T>A

Surrounding Variants

1 paper

NM_004656.4

p.C91insFs

c.272dupG

16 papers

NM_004656.4

p.C91W

c.273T>G

1 paper

NM_004656.4

p.C91C

c.273T>C

7 papers

NM_004656.4

p.C91F

c.272G>T

2 papers

NM_004656.4

p.A92S

c.274G>T

1 paper

NM_004656.4

p.S90_C91insFs

c.270_271dupTT

63 papers

NM_004656.4

p.C91S

c.272G>C

1 paper

NM_004656.4

p.A92P

c.274G>C

6 papers

NM_004656.4

p.C91Y

c.272G>A

3 papers

NM_004656.4

p.A92T

c.274G>A

1 paper

NM_004656.4

p.C91delFs

c.273delA

21 papers

NM_004656.4

p.C91G

c.271T>G