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.D552D

c.1656T>C

Surrounding Variants

1 paper

NM_004656.4

p.D552fs

c.1654_1655fs

1 paper

NM_004656.4

p.D552delFs

c.1655delT

1 paper

NM_004656.4

p.L553fs

c.1657_1658fs

1 paper

NM_004656.4

p.L553V

c.1657C>G

1 paper

NM_004656.4

p.D552insFs

c.1654dupG

4 papers

NM_004656.4

p.D552delFs

c.1654delC

1 paper

NM_004656.4

p.R551delFs

c.1652_1653delAC

1 paper

NM_004656.4

p.L553delFs

c.1657delG

3 papers

NM_004656.4

p.D552fs

c.1654_1655fs

1 paper

NM_004656.4

p.D552H

c.1654G>C

1 paper

NM_004656.4

p.R551R

c.1653T>C

1 paper

NM_004656.4

p.L553L

c.1659G>T