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.D434A

c.1301A>C

Surrounding Variants

1 paper

NM_004656.4

p.D434V

c.1301A>T

1 paper

NM_004656.4

p.D434G

c.1301A>G

1 paper

NM_004656.4

p.D434fs

c.1300_1301fs

1 paper

NM_004656.4

p.D434E

c.1302T>G

1 paper

NM_004656.4

p.D434E

c.1302T>A

1 paper

NM_004656.4

p.D434Y

c.1300G>T

1 paper

NM_004656.4

p.D434_G435ins4

c.1300_1304ins12

1 paper

NM_004656.4

p.D434H

c.1300G>C

2 papers

NM_004656.4

p.D434N

c.1300G>A

1 paper

NM_004656.4

p.A433delFs

c.1298_1299delAG

1 paper

NM_004656.4

p.A433fs

c.1297_1298fs

1 paper

NM_004656.4

p.A433A

c.1299T>C