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.A471fs

c.1411_1412fs

Surrounding Variants

3 papers

NM_004656.4

p.A471A

c.1413T>G

1 paper

NM_004656.4

p.A471A

c.1413T>C

2 papers

NM_004656.4

p.G472R

c.1414G>C

3 papers

NM_004656.4

p.G472R

c.1414G>A

2 papers

NM_004656.4

p.S469_A471del3

c.1405_1412del9

1 paper

NM_004656.4

p.A471V

c.1412C>T

1 paper

NM_004656.4

p.A471G

c.1412C>G

1 paper

NM_004656.4

p.A471insFs

c.1411dupG

1 paper

NM_004656.4

p.A471D

c.1412C>A

1 paper

NM_004656.4

p.A471delFs

c.1411delC

1 paper

NM_004656.4

p.A471S

c.1411G>T

1 paper

NM_004656.4

p.A471P

c.1411G>C