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

1–12 of 139 variants

3 papers

NM_001346252.4

p.K90Splc

c.269-2A>G

2 papers

NM_001346252.4

p.R141C

c.421C>T

2 papers

NM_001346252.4

p.I177T

c.530T>C

2 papers

NM_001346252.4

p.D345N

c.1033G>A

2 papers

NM_001346252.4

p.R631I

c.1892G>T

2 papers

NM_001346252.4

p.V640I

c.1918G>A

2 papers

NM_001346252.4

p.A739V

c.2216C>T

1 paper

NM_001346252.4

p.E30V

c.89A>T

1 paper

NM_001346252.4

p.E30D

c.90A>C

1 paper

NM_001346252.4

p.I31M

c.93C>G

1 paper

NM_001346252.4

p.D36E

c.108C>G

1 paper

NM_001346252.4

p.D36E

c.108C>A