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.G422A

c.1265G>C

Surrounding Variants

2 papers

NM_004656.4

p.G422R

c.1264G>C

2 papers

NM_004656.4

p.G422R

c.1264G>A

1 paper

NM_004656.4

p.G422G

c.1266A>T

5 papers

NM_004656.4

p.G422fs

c.1264_1265fs

2 papers

NM_004656.4

p.G422delFs

c.1265delC

2 papers

NM_004656.4

p.G422fs

c.1264_1265fs

5 papers

NM_004656.4

p.K421fs

c.1261_1262fs

1 paper

NM_004656.4

p.K421K

c.1263G>A

2 papers

NM_004656.4

p.K421delFs

c.1262delT

1 paper

NM_004656.4

p.T423fs

c.1267_1268fs

4 papers

NM_004656.4

p.T423K

c.1268C>A

1 paper

NM_004656.4

p.G422_T423delFs

c.1266_1267delTT