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.N490Y

c.1468A>T

Surrounding Variants

2 papers

NM_004656.4

p.N490D

c.1468A>G

1 paper

NM_004656.4

p.N490H

c.1468A>C

1 paper

NM_004656.4

p.S489S

c.1467C>T

1 paper

NM_004656.4

p.S489R

c.1467C>G

1 paper

NM_004656.4

p.S489fs

c.1465_1466fs

1 paper

NM_004656.4

p.S489R

c.1467C>A

1 paper

NM_004656.4

p.N490I

c.1469A>T

2 papers

NM_004656.4

p.N490S

c.1469A>G

2 papers

NM_004656.4

p.N490T

c.1469A>C

1 paper

NM_004656.4

p.T487_S489del3

c.1459_1466del9

1 paper

NM_004656.4

p.N490fs

c.1468_1469fs

1 paper

NM_004656.4

p.N490K

c.1470T>G