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.F81F

c.243C>T

Surrounding Variants

5 papers

NM_004656.4

p.F81L

c.243C>G

6 papers

NM_004656.4

p.F81L

c.243C>A

1 paper

NM_004656.4

p.F82V

c.244T>G

1 paper

NM_004656.4

p.F81C

c.242T>G

2 papers

NM_004656.4

p.F81S

c.242T>C

1 paper

NM_004656.4

p.F82L

c.244T>C

1 paper

NM_004656.4

p.F82I

c.244T>A

1 paper

NM_004656.4

p.F81Y

c.242T>A

1 paper

NM_004656.4

p.N79_F81del3

c.235_242del9

10 papers

NM_004656.4

p.F81V

c.241T>G

1 paper

NM_004656.4

p.F82C

c.245T>G

5 papers

NM_004656.4

p.F81L

c.241T>C