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

2 papers

NM_004656.4

p.P474L

c.1421C>T

Surrounding Variants

2 papers

NM_004656.4

p.P474fs

c.1420_1421fs

1 paper

NM_004656.4

p.P474P

c.1422G>A

1 paper

NM_004656.4

p.I465_P474delFs

c.1393_1421del29

2 papers

NM_004656.4

p.A475S

c.1423G>T

1 paper

NM_004656.4

p.A475P

c.1423G>C

1 paper

NM_004656.4

p.A475T

c.1423G>A

1 paper

NM_004656.4

p.A475V

c.1424C>T

1 paper

NM_004656.4

p.A475G

c.1424C>G

1 paper

NM_004656.4

p.A475D

c.1424C>A

1 paper

NM_004656.4

p.G472_P474del3

c.1414_1421del9

1 paper

NM_004656.4

p.S473fs

c.1417_1418fs

1 paper

NM_004656.4

p.S473C

c.1417A>T