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.F181delFs

c.542_543delAA

Surrounding Variants

3 papers

NM_004656.4

p.E182*

c.544G>T

2 papers

NM_004656.4

p.E182Q

c.544G>C

4 papers

NM_004656.4

p.E182K

c.544G>A

1 paper

NM_004656.4

p.F181delFs

c.543delA

1 paper

NM_004656.4

p.F181del1

c.541_543delAAA

1 paper

NM_004656.4

p.F181L

c.543T>G

1 paper

NM_004656.4

p.F181F

c.543T>C

1 paper

NM_004656.4

p.F181L

c.543T>A

1 paper

NM_004656.4

p.F181delins

c.542_543delinsGA

1 paper

NM_004656.4

p.F181delins

c.541_543delinsGCC

3 papers

NM_004656.4

p.E182V

c.545A>T

3 papers

NM_004656.4

p.E182G

c.545A>G