Varaico: Literature-Extracted Genetic Variants

USP28

108 papers

RefSeq Summary

The protein encoded by this gene is a deubiquitinase involved in the DNA damage pathway and DNA damage-induced apoptosis. Overexpression of this gene is seen in several cancers. [provided by RefSeq, O...

Pfam Domains

UBA_8aa 19–65UCSCUBA-like domain

USP_UIM_Naa 74–126UCSCUbiquitin-specific protease UIM domain

UCHaa 162–647UCSCUbiquitin carboxyl-terminal hydrolase

Gene Aliases

HGNC Name

ubiquitin specific peptidase 28

HGNC Alias Symbol

KIAA1515

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001346252.4

p.L180_F181insCA

c.538_542ins6

Surrounding Variants

1 paper

NM_001346252.4

p.F181V

c.541T>G

1 paper

NM_001346252.4

p.Q182*

c.544C>T

1 paper

NM_001346252.4

p.R187*

c.559C>T

1 paper

NM_001346252.4

p.L189_V190delFs

c.566_569del4

1 paper

NM_001346252.4

p.V199I

c.595G>A

1 paper

NM_001346252.4

p.R204*

c.610C>T

1 paper

NM_001346252.4

p.E208fs

c.622_623fs

1 paper

NM_001346252.4

p.Q216*

c.646C>T

1 paper

NM_001346252.4

p.Y220C

c.659A>G

1 paper

NM_001346252.4

p.Y220*

c.660T>G

1 paper

NM_001346252.4

p.Y220*

c.660T>A

1 paper

NM_001346252.4

p.A223P

c.667G>C