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.S509S

c.1527G>A

Surrounding Variants

1 paper

NM_004656.4

p.S509S

c.1527G>T

1 paper

NM_004656.4

p.S509fs

c.1525_1526fs

1 paper

NM_004656.4

p.S509S

c.1527G>C

3 papers

NM_004656.4

p.S509L

c.1526C>T

2 papers

NM_004656.4

p.P510S

c.1528C>T

1 paper

NM_004656.4

p.S509insFs

c.1525dupT

2 papers

NM_004656.4

p.P510_I511insT

c.1528_1532ins3

1 paper

NM_004656.4

p.S509insFs

c.1526_1527insA

3 papers

NM_004656.4

p.S509*

c.1526C>A

1 paper

NM_004656.4

p.P510L

c.1529C>T

1 paper

NM_004656.4

p.R508_S509del2

c.1522_1526del6

5 papers

NM_004656.4

p.P510fs

c.1528_1529fs