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.P235S

c.703C>T

Surrounding Variants

1 paper

NM_001346252.4

p.P235L

c.704C>T

1 paper

NM_001346252.4

p.G227G

c.681A>T

1 paper

NM_001346252.4

p.A223P

c.667G>C

1 paper

NM_001346252.4

p.S248A

c.742T>G

1 paper

NM_001346252.4

p.S249A

c.745T>G

1 paper

NM_001346252.4

p.R247_S248delFs

c.741_744del4

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.Y220C

c.659A>G

1 paper

NM_001346252.4

p.Q252E

c.754C>G

1 paper

NM_001346252.4

p.Q253*

c.757C>T

1 paper

NM_001346252.4

p.Q216*

c.646C>T