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.K120K

c.360G>A

Surrounding Variants

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

6 papers

NM_004656.4

p.G121R

c.361G>C

1 paper

NM_004656.4

p.G121S

c.361G>A

1 paper

NM_004656.4

p.T119_K120del2

c.355_359del6

1 paper

NM_004656.4

p.D117_K120delFs

c.349_359del11

1 paper

NM_004656.4

p.R114_K120delFs

c.341_359del19

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.G121V

c.362G>T

1 paper

NM_004656.4

p.G121A

c.362G>C