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

3 papers

NM_004656.4

p.D74fs

c.220_221fs

Surrounding Variants

1 paper

NM_004656.4

p.D74E

c.222T>G

1 paper

NM_004656.4

p.D74D

c.222T>C

1 paper

NM_004656.4

p.D74E

c.222T>A

3 papers

NM_004656.4

p.D73_D74delFs

c.218_221del4

1 paper

NM_004656.4

p.D75Y

c.223G>T

2 papers

NM_004656.4

p.D75H

c.223G>C

4 papers

NM_004656.4

p.D75N

c.223G>A

1 paper

NM_004656.4

p.D74delFs

c.222delA

1 paper

NM_004656.4

p.D74V

c.221A>T

1 paper

NM_004656.4

p.D74G

c.221A>G

1 paper

NM_004656.4

p.D74A

c.221A>C

4 papers

NM_004656.4

p.D74Y

c.220G>T