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.K115R

c.344A>G

Surrounding Variants

1 paper

NM_001346252.4

p.R125R

c.373A>C

1 paper

NM_001346252.4

p.Q103*

c.307C>T

1 paper

NM_001346252.4

p.K99R

c.296A>G

1 paper

NM_001346252.4

p.T95I

c.284C>T

1 paper

NM_001346252.4

p.K90N

c.270A>T

3 papers

NM_001346252.4

p.K90Splc

c.269-2A>G

2 papers

NM_001346252.4

p.R141C

c.421C>T

1 paper

NM_001346252.4

p.E147_D153insFs

c.439_457dup19

1 paper

NM_001346252.4

p.W160*

c.479G>A

1 paper

NM_001346252.4

p.W160*

c.480G>A

2 papers

NM_001346252.4

p.I177T

c.530T>C

1 paper

NM_001346252.4

p.L180_F181insCA

c.538_542ins6