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.H84D

c.250C>G

Surrounding Variants

3 papers

NM_004656.4

p.H84Y

c.250C>T

1 paper

NM_004656.4

p.H84N

c.250C>A

1 paper

NM_004656.4

p.A83_H84Fs

c.249_250delinsTFs

2 papers

NM_004656.4

p.A83A

c.249C>T

1 paper

NM_004656.4

p.A83A

c.249C>G

1 paper

NM_004656.4

p.A83A

c.249C>A

1 paper

NM_004656.4

p.H84L

c.251A>T

1 paper

NM_004656.4

p.H84R

c.251A>G

1 paper

NM_004656.4

p.H84P

c.251A>C

1 paper

NM_004656.4

p.H84delFs

c.250delG

5 papers

NM_004656.4

p.A83V

c.248C>T

1 paper

NM_004656.4

p.H84H

c.252C>T