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.D192Y

c.574G>T

Surrounding Variants

2 papers

NM_004656.4

p.D192H

c.574G>C

1 paper

NM_004656.4

p.D192N

c.574G>A

1 paper

NM_004656.4

p.I191delFs

c.573delA

1 paper

NM_004656.4

p.I191del1

c.571_573delAAT

1 paper

NM_004656.4

p.D192fs

c.574_575fs

1 paper

NM_004656.4

p.I191fs

c.571_572fs

1 paper

NM_004656.4

p.I191M

c.573T>G

2 papers

NM_004656.4

p.I191I

c.573T>C

1 paper

NM_004656.4

p.I191I

c.573T>A

1 paper

NM_004656.4

p.I191delins

c.571_573delinsGCC

1 paper

NM_004656.4

p.I191delins

c.571_573delinsTGA

1 paper

NM_004656.4

p.D192V

c.575A>T