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.Q684E

c.2050C>G

Surrounding Variants

1 paper

NM_004656.4

p.Q684fs

c.2050_2051fs

49 papers

NM_004656.4

p.Q684*

c.2050C>T

1 paper

NM_004656.4

p.A683fs

c.2047_2048fs

1 paper

NM_004656.4

p.Q684fs

c.2050_2051fs

1 paper

NM_004656.4

p.Q684insFs

c.2051dupA

2 papers

NM_004656.4

p.Q684delFs

c.2051delT

1 paper

NM_004656.4

p.A683V

c.2048C>T

1 paper

NM_004656.4

p.A683G

c.2048C>G

1 paper

NM_004656.4

p.A683D

c.2048C>A

1 paper

NM_004656.4

p.A683S

c.2047G>T

1 paper

NM_004656.4

p.A683P

c.2047G>C

1 paper

NM_004656.4

p.A683T

c.2047G>A