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

17 papers

NM_004656.4

p.D68G

c.203A>G

Surrounding Variants

1 paper

NM_004656.4

p.D68V

c.203A>T

1 paper

NM_004656.4

p.D68A

c.203A>C

1 paper

NM_004656.4

p.D68E

c.204T>G

1 paper

NM_004656.4

p.D68D

c.204T>C

1 paper

NM_004656.4

p.D68E

c.204T>A

1 paper

NM_004656.4

p.D68delFs

c.203delT

2 papers

NM_004656.4

p.D68Y

c.202G>T

1 paper

NM_004656.4

p.D67insFs

c.201dupT

1 paper

NM_004656.4

p.D68H

c.202G>C

1 paper

NM_004656.4

p.D68N

c.202G>A

1 paper

NM_004656.4

p.D67E

c.201T>G

1 paper

NM_004656.4

p.D67D

c.201T>C