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.V569G

c.1706T>G

Surrounding Variants

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.V569V

c.1707G>A

2 papers

NM_004656.4

p.V569fs

c.1705_1706fs

1 paper

NM_004656.4

p.G568fs

c.1702_1703fs

1 paper

NM_004656.4

p.G568G

c.1704G>A

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.A565_D567del3

c.1693_1700del9

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.G568R

c.1702G>C