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.V569_L570del2

c.1705_1709del6

Surrounding Variants

1 paper

NM_004656.4

p.S571G

c.1711A>G

1 paper

NM_004656.4

p.G568_L570del3

c.1702_1709del9

1 paper

NM_004656.4

p.L570insFs

c.1709_1710insT

7 papers

NM_004656.4

p.L570fs

c.1708_1709fs

1 paper

NM_004656.4

p.L570L

c.1708C>T

12 papers

NM_004656.4

p.L570V

c.1708C>G

1 paper

NM_004656.4

p.V569V

c.1707G>A

1 paper

NM_004656.4

p.P572L

c.1715C>T

1 paper

NM_004656.4

p.V569G

c.1706T>G

1 paper

NM_004656.4

p.V569A

c.1706T>C

1 paper

NM_004656.4

p.V569delFs

c.1705delC

1 paper

NM_004656.4

p.P572P

c.1716C>T