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

3 papers

NM_004656.4

p.H193R

c.578A>G

Surrounding Variants

1 paper

NM_004656.4

p.H193L

c.578A>T

3 papers

NM_004656.4

p.H193P

c.578A>C

1 paper

NM_004656.4

p.H193ins1

c.578_579insTGG

2 papers

NM_004656.4

p.H193delFs

c.577delG

1 paper

NM_004656.4

p.H193fs

c.577_578fs

6 papers

NM_004656.4

p.H193Q

c.579T>G

1 paper

NM_004656.4

p.H193H

c.579T>C

6 papers

NM_004656.4

p.H193Q

c.579T>A

1 paper

NM_004656.4

p.H193delFs

c.578delT

1 paper

NM_004656.4

p.H193delins

c.577_579delinsGCC

1 paper

NM_004656.4

p.H193fs

c.577_578fs

1 paper

NM_004656.4

p.H193delins

c.577_579delinsTGA