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

2 papers

NM_001346252.4

p.V640I

c.1918G>A

Surrounding Variants

1 paper

NM_001346252.4

p.S641G

c.1921A>G

1 paper

NM_001346252.4

p.G635R

c.1903G>C

1 paper

NM_001346252.4

p.G635R

c.1903G>A

1 paper

NM_001346252.4

p.S633F

c.1898C>T

2 papers

NM_001346252.4

p.R631I

c.1892G>T

1 paper

NM_001346252.4

p.I619I

c.1857C>T

1 paper

NM_001346252.4

p.R610Q

c.1829G>A

1 paper

NM_001346252.4

p.Y604C

c.1811A>G

1 paper

NM_001346252.4

p.H600Q

c.1800C>G

1 paper

NM_001346252.4

p.H600Q

c.1800C>A

1 paper

NM_001346252.4

p.H600Y

c.1798C>T

1 paper

NM_001346252.4

p.Q581*

c.1741C>T