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.Q483Q

c.1449G>A

Surrounding Variants

2 papers

NM_004656.4

p.P484S

c.1450C>T

7 papers

NM_004656.4

p.Q483*

c.1447C>T

1 paper

NM_004656.4

p.S482S

c.1446G>T

1 paper

NM_004656.4

p.S482S

c.1446G>A

6 papers

NM_004656.4

p.S482L

c.1445C>T

1 paper

NM_004656.4

p.S485fs

c.1453_1454fs

3 papers

NM_004656.4

p.S485*

c.1454C>G

3 papers

NM_004656.4

p.S485*

c.1454C>A

1 paper

NM_004656.4

p.H481H

c.1443C>T

1 paper

NM_004656.4

p.H481fs

c.1441_1442fs

1 paper

NM_004656.4

p.S485S

c.1455A>T

1 paper

NM_004656.4

p.S485S

c.1455A>G