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.G185V

c.554G>T

Surrounding Variants

2 papers

NM_004656.4

p.G185A

c.554G>C

2 papers

NM_004656.4

p.G185E

c.554G>A

1 paper

NM_004656.4

p.D184_G185del1

c.551_553delCAT

2 papers

NM_004656.4

p.G185W

c.553G>T

1 paper

NM_004656.4

p.G185G

c.555G>T

21 papers

NM_004656.4

p.G185R

c.553G>C

1 paper

NM_004656.4

p.G185G

c.555G>C

21 papers

NM_004656.4

p.G185R

c.553G>A

1 paper

NM_004656.4

p.G185G

c.555G>A

1 paper

NM_004656.4

p.D184delFs

c.552delA

1 paper

NM_004656.4

p.H169_D184del16

c.505_551del48

1 paper

NM_004656.4

p.G185delins

c.554_555delinsCC