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.R213_A219delFs

c.637_655del19

Surrounding Variants

2 papers

NM_004656.4

p.A219fs

c.655_656fs

1 paper

NM_004656.4

p.I214_A219delFs

c.642_657del16

1 paper

NM_004656.4

p.A219V

c.656C>T

1 paper

NM_004656.4

p.A219G

c.656C>G

1 paper

NM_004656.4

p.A219E

c.656C>A

1 paper

NM_004656.4

p.A219delFs

c.655delC

2 papers

NM_004656.4

p.A219S

c.655G>T

1 paper

NM_004656.4

p.G220V

c.659G>T

1 paper

NM_004656.4

p.A219P

c.655G>C

1 paper

NM_004656.4

p.A219T

c.655G>A

1 paper

NM_004656.4

p.T218T

c.654T>C

5 papers

NM_004656.4

p.G220Splc

c.659+1G>T