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

3 papers

NM_004656.4

p.S485*

c.1454C>A

Surrounding Variants

3 papers

NM_004656.4

p.S485*

c.1454C>G

1 paper

NM_004656.4

p.S485S

c.1455A>T

1 paper

NM_004656.4

p.S485S

c.1455A>G

1 paper

NM_004656.4

p.S485fs

c.1453_1454fs

1 paper

NM_004656.4

p.S482_P484del3

c.1444_1451del9

1 paper

NM_004656.4

p.S485delFs

c.1455delT

2 papers

NM_004656.4

p.P486L

c.1457C>T

2 papers

NM_004656.4

p.P484S

c.1450C>T

1 paper

NM_004656.4

p.P486P

c.1458C>T

1 paper

NM_004656.4

p.P486P

c.1458C>A

1 paper

NM_004656.4

p.Q483Q

c.1449G>A

1 paper

NM_004656.4

p.P484_P486del3

c.1450_1457del9