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.T495fs

c.1483_1484fs

Surrounding Variants

1 paper

NM_004656.4

p.T495T

c.1485G>A

1 paper

NM_004656.4

p.A496S

c.1486G>T

1 paper

NM_004656.4

p.A496P

c.1486G>C

3 papers

NM_004656.4

p.A496T

c.1486G>A

1 paper

NM_004656.4

p.T493_T495del3

c.1477_1484del9

3 papers

NM_004656.4

p.T495M

c.1484C>T

3 papers

NM_004656.4

p.A496V

c.1487C>T

2 papers

NM_004656.4

p.A496G

c.1487C>G

1 paper

NM_004656.4

p.A496D

c.1487C>A

1 paper

NM_004656.4

p.T495A

c.1483A>G

1 paper

NM_004656.4

p.A496A

c.1488C>G

1 paper

NM_004656.4

p.D494E

c.1482C>G