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.V478_P479insFs

c.1432_1435dup4

Surrounding Variants

2 papers

NM_004656.4

p.P479L

c.1436C>T

1 paper

NM_004656.4

p.P479P

c.1437C>T

1 paper

NM_004656.4

p.P479fs

c.1435_1436fs

1 paper

NM_004656.4

p.V478V

c.1434G>A

1 paper

NM_004656.4

p.P479delFs

c.1437delG

1 paper

NM_004656.4

p.A475_A477del3

c.1423_1430del9

1 paper

NM_004656.4

p.T480I

c.1439C>T

1 paper

NM_004656.4

p.A477_V478ins1

c.1431_1432insAAA

1 paper

NM_004656.4

p.V478M

c.1432G>A

1 paper

NM_004656.4

p.T480T

c.1440A>T

1 paper

NM_004656.4

p.T480T

c.1440A>G

1 paper

NM_004656.4

p.H481Y

c.1441C>T