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.A449_K451del3

c.1345_1352del9

Surrounding Variants

1 paper

NM_004656.4

p.K451K

c.1353G>A

2 papers

NM_004656.4

p.L452L

c.1356C>T

2 papers

NM_004656.4

p.K453*

c.1357A>T

2 papers

NM_004656.4

p.K453E

c.1357A>G

5 papers

NM_004656.4

p.K453fs

c.1357_1358fs

1 paper

NM_004656.4

p.E450fs

c.1348_1349fs

1 paper

NM_004656.4

p.E450E

c.1350G>A

1 paper

NM_004656.4

p.K453R

c.1358A>G

1 paper

NM_004656.4

p.K453K

c.1359A>G

5 papers

NM_004656.4

p.K453fs

c.1357_1358fs

3 papers

NM_004656.4

p.E454*

c.1360G>T

1 paper

NM_004656.4

p.E450*

c.1348G>T