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.L86_I87del1

c.257_259delTCA

Surrounding Variants

1 paper

NM_004656.4

p.I87M

c.261A>G

1 paper

NM_004656.4

p.I87fs

c.259_260fs

1 paper

NM_004656.4

p.P88S

c.262C>T

1 paper

NM_004656.4

p.P88A

c.262C>G

3 papers

NM_004656.4

p.I87insFs

c.261dupA

3 papers

NM_004656.4

p.P88fs

c.262_263fs

1 paper

NM_004656.4

p.I87del1

c.259_260delTAT

1 paper

NM_004656.4

p.L86insFs

c.258dupG

1 paper

NM_004656.4

p.I87fs

c.259_260fs

1 paper

NM_004656.4

p.L86fs

c.256_257fs

2 papers

NM_004656.4

p.P88fs

c.262_263fs

1 paper

NM_004656.4

p.L86Q

c.257T>A