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.A574A

c.1722G>T

Surrounding Variants

1 paper

NM_004656.4

p.A574A

c.1722G>C

1 paper

NM_004656.4

p.A574A

c.1722G>A

6 papers

NM_004656.4

p.A574V

c.1721C>T

1 paper

NM_004656.4

p.A574G

c.1721C>G

1 paper

NM_004656.4

p.A574E

c.1721C>A

1 paper

NM_004656.4

p.E566_A574del0

c.1697_1720del24

1 paper

NM_004656.4

p.A574S

c.1720G>T

1 paper

NM_004656.4

p.A574P

c.1720G>C

3 papers

NM_004656.4

p.A574T

c.1720G>A

1 paper

NM_004656.4

p.S571_L573del3

c.1711_1718del9

1 paper

NM_004656.4

p.L573L

c.1719G>T

21 papers

NM_004656.4

p.L573fs

c.1717_1718fs