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.A477G

c.1430C>G

Surrounding Variants

2 papers

NM_004656.4

p.A477V

c.1430C>T

1 paper

NM_004656.4

p.A477E

c.1430C>A

1 paper

NM_004656.4

p.A477delFs

c.1429delC

3 papers

NM_004656.4

p.A477S

c.1429G>T

1 paper

NM_004656.4

p.A477_V478insK

c.1429_1433ins3

1 paper

NM_004656.4

p.A477P

c.1429G>C

1 paper

NM_004656.4

p.A477T

c.1429G>A

1 paper

NM_004656.4

p.A477_V478ins1

c.1431_1432insAAA

1 paper

NM_004656.4

p.V478M

c.1432G>A

4 papers

NM_004656.4

p.V476A

c.1427T>C

1 paper

NM_004656.4

p.S473_V476delFs

c.1417_1426del10

1 paper

NM_004656.4

p.A475_A477del3

c.1423_1430del9