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.G554S

c.1660G>A

Surrounding Variants

1 paper

NM_004656.4

p.G554fs

c.1660_1661fs

1 paper

NM_004656.4

p.G554C

c.1660G>T

1 paper

NM_004656.4

p.R551_L553del3

c.1651_1658del9

1 paper

NM_004656.4

p.L553L

c.1659G>T

1 paper

NM_004656.4

p.L553L

c.1659G>A

1 paper

NM_004656.4

p.G554delFs

c.1661delC

1 paper

NM_004656.4

p.L553delFs

c.1657delG

1 paper

NM_004656.4

p.L553fs

c.1657_1658fs

1 paper

NM_004656.4

p.P555S

c.1663C>T

1 paper

NM_004656.4

p.L553V

c.1657C>G

2 papers

NM_004656.4

p.P555T

c.1663C>A

1 paper

NM_004656.4

p.D552fs

c.1654_1655fs