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.K187M

c.560A>T

Surrounding Variants

2 papers

NM_004656.4

p.K187R

c.560A>G

1 paper

NM_004656.4

p.K187T

c.560A>C

1 paper

NM_004656.4

p.K187N

c.561G>T

2 papers

NM_004656.4

p.K187fs

c.559_560fs

1 paper

NM_004656.4

p.K187N

c.561G>C

1 paper

NM_004656.4

p.K187K

c.561G>A

1 paper

NM_004656.4

p.K187delFs

c.560delT

1 paper

NM_004656.4

p.K187delins

c.559_561delinsGCC

1 paper

NM_004656.4

p.K187delins

c.559_561delinsTGA

1 paper

NM_004656.4

p.K187*

c.559A>T

1 paper

NM_004656.4

p.K187E

c.559A>G

1 paper

NM_004656.4

p.K187Q

c.559A>C