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.A502_N504del3

c.1504_1511del9

Surrounding Variants

1 paper

NM_004656.4

p.S505_P506insC

c.1513_1517ins3

1 paper

NM_004656.4

p.N504delFs

c.1512delG

2 papers

NM_004656.4

p.S505L

c.1514C>T

1 paper

NM_004656.4

p.N504K

c.1512C>G

1 paper

NM_004656.4

p.S505*

c.1514C>A

1 paper

NM_004656.4

p.N504K

c.1512C>A

1 paper

NM_004656.4

p.S505S

c.1515G>T

1 paper

NM_004656.4

p.S505fs

c.1513_1514fs

1 paper

NM_004656.4

p.S505S

c.1515G>A

1 paper

NM_004656.4

p.S505delFs

c.1513_1514delGA

1 paper

NM_004656.4

p.N504I

c.1511A>T

2 papers

NM_004656.4

p.N504S

c.1511A>G