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.F46_K51delFs

c.138_151del14

Surrounding Variants

5 papers

NM_004656.4

p.K51I

c.152A>T

2 papers

NM_004656.4

p.K51R

c.152A>G

1 paper

NM_004656.4

p.K51T

c.152A>C

1 paper

NM_004656.4

p.I47_F50del4

c.139_149del12

1 paper

NM_004656.4

p.K51N

c.153A>T

1 paper

NM_004656.4

p.K51K

c.153A>G

1 paper

NM_004656.4

p.K51E

c.151A>G

1 paper

NM_004656.4

p.K51N

c.153A>C

1 paper

NM_004656.4

p.K51Q

c.151A>C

2 papers

NM_004656.4

p.K51fs

c.151_152fs

1 paper

NM_004656.4

p.W52G

c.154T>G

1 paper

NM_004656.4

p.W52R

c.154T>C