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.T119T

c.357C>G

Surrounding Variants

3 papers

NM_004656.4

p.T119I

c.356C>T

3 papers

NM_004656.4

p.K120*

c.358A>T

7 papers

NM_004656.4

p.K120E

c.358A>G

1 paper

NM_004656.4

p.T119P

c.355A>C

1 paper

NM_004656.4

p.F118delFs

c.354delG

1 paper

NM_004656.4

p.T119del1

c.355_356delGGT

1 paper

NM_004656.4

p.F118_K120delFs

c.354_358del5

1 paper

NM_004656.4

p.K120N

c.360G>T

1 paper

NM_004656.4

p.K120fs

c.358_359fs

1 paper

NM_004656.4

p.K120N

c.360G>C

1 paper

NM_004656.4

p.K120K

c.360G>A

1 paper

NM_004656.4

p.F118F

c.354C>T