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.D204V

c.611A>T

Surrounding Variants

1 paper

NM_004656.4

p.D204G

c.611A>G

1 paper

NM_004656.4

p.D204A

c.611A>C

1 paper

NM_004656.4

p.W202_D204insFs

c.604_610dup7

1 paper

NM_004656.4

p.D204delFs

c.610delC

2 papers

NM_004656.4

p.D204Y

c.610G>T

1 paper

NM_004656.4

p.D204H

c.610G>C

3 papers

NM_004656.4

p.D204N

c.610G>A

1 paper

NM_004656.4

p.D204D

c.612C>T

1 paper

NM_004656.4

p.D204E

c.612C>G

1 paper

NM_004656.4

p.D204fs

c.610_611fs

1 paper

NM_004656.4

p.D204E

c.612C>A

1 paper

NM_004656.4

p.D204fs

c.610_611fs