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.N89D

c.265A>G

Surrounding Variants

2 papers

NM_004656.4

p.N89fs

c.265_266fs

2 papers

NM_004656.4

p.N89Y

c.265A>T

1 paper

NM_004656.4

p.N89H

c.265A>C

1 paper

NM_004656.4

p.P88delFs

c.264delG

1 paper

NM_004656.4

p.P88del1

c.262_263delGGG

1 paper

NM_004656.4

p.L86_P88del3

c.256_263del9

2 papers

NM_004656.4

p.P88fs

c.262_263fs

1 paper

NM_004656.4

p.N89I

c.266A>T

4 papers

NM_004656.4

p.N89S

c.266A>G

1 paper

NM_004656.4

p.N89T

c.266A>C

1 paper

NM_004656.4

p.N89N

c.267C>T

1 paper

NM_004656.4

p.N89K

c.267C>G