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.T444delFs

c.1332delG

Surrounding Variants

1 paper

NM_004656.4

p.P442_T444del3

c.1324_1331del9

1 paper

NM_004656.4

p.T444T

c.1332C>T

1 paper

NM_004656.4

p.T444I

c.1331C>T

1 paper

NM_004656.4

p.T444S

c.1331C>G

1 paper

NM_004656.4

p.I445fs

c.1333_1334fs

1 paper

NM_004656.4

p.I445I

c.1335C>A

1 paper

NM_004656.4

p.T444delFs

c.1330delT

1 paper

NM_004656.4

p.N446fs

c.1336_1337fs

1 paper

NM_004656.4

p.N446Y

c.1336A>T

3 papers

NM_004656.4

p.T444A

c.1330A>G

1 paper

NM_004656.4

p.N446D

c.1336A>G

1 paper

NM_004656.4

p.N446H

c.1336A>C