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.E498E

c.1494G>A

Surrounding Variants

2 papers

NM_004656.4

p.E498fs

c.1492_1493fs

1 paper

NM_004656.4

p.E498G

c.1493A>G

1 paper

NM_004656.4

p.E498A

c.1493A>C

1 paper

NM_004656.4

p.I499S

c.1496T>G

3 papers

NM_004656.4

p.E498*

c.1492G>T

1 paper

NM_004656.4

p.S497insFs

c.1491dupT

2 papers

NM_004656.4

p.E498Q

c.1492G>C

6 papers

NM_004656.4

p.E498K

c.1492G>A

1 paper

NM_004656.4

p.S497S

c.1491T>G

1 paper

NM_004656.4

p.S497S

c.1491T>C

2 papers

NM_004656.4

p.I499I

c.1497C>T

1 paper

NM_004656.4

p.I499M

c.1497C>G