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.K187Q

c.559A>C

Surrounding Variants

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.L186delFs

c.558delC

1 paper

NM_004656.4

p.L186del1

c.556_558delCAG

1 paper

NM_004656.4

p.E182_L186del5

c.544_557del15

1 paper

NM_004656.4

p.L186L

c.558G>T

1 paper

NM_004656.4

p.L186L

c.558G>C

2 papers

NM_004656.4

p.L186L

c.558G>A

1 paper

NM_004656.4

p.L186delFs

c.557delA

1 paper

NM_004656.4

p.L186delins

c.556_558delinsGCC

1 paper

NM_004656.4

p.L186delins

c.556_558delinsTGA

1 paper

NM_004656.4

p.K187M

c.560A>T