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.V439fs

c.1315_1316fs

Surrounding Variants

6 papers

NM_004656.4

p.V439L

c.1315G>T

7 papers

NM_004656.4

p.V439L

c.1315G>C

1 paper

NM_004656.4

p.S438S

c.1314A>T

1 paper

NM_004656.4

p.S438S

c.1314A>G

1 paper

NM_004656.4

p.S438S

c.1314A>C

1 paper

NM_004656.4

p.V439V

c.1317G>T

1 paper

NM_004656.4

p.V439V

c.1317G>C

1 paper

NM_004656.4

p.S438*

c.1313C>G

1 paper

NM_004656.4

p.S438*

c.1313C>A

1 paper

NM_004656.4

p.S438P

c.1312T>C

1 paper

NM_004656.4

p.L437delFs

c.1311delC

2 papers

NM_004656.4

p.L440L

c.1318C>T