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.L452_E454del3

c.1354_1361del9

Surrounding Variants

1 paper

NM_004656.4

p.S455A

c.1363T>G

1 paper

NM_004656.4

p.K453_E454delFs

c.1359_1360delCT

1 paper

NM_004656.4

p.A449_E454del6

c.1345_1361del18

4 papers

NM_004656.4

p.E454fs

c.1360_1361fs

1 paper

NM_004656.4

p.E454E

c.1362G>A

1 paper

NM_004656.4

p.S455S

c.1365C>T

1 paper

NM_004656.4

p.S455S

c.1365C>A

3 papers

NM_004656.4

p.E454*

c.1360G>T

3 papers

NM_004656.4

p.E454insFs

c.1360_1361insA

2 papers

NM_004656.4

p.E454fs

c.1360_1361fs

4 papers

NM_004656.4

p.Q456fs

c.1366_1367fs

8 papers

NM_004656.4

p.K453delFs

c.1358_1359delTT