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_001346258.2

p.Q878K

c.2632C>A

Surrounding Variants

1 paper

NM_001346258.2

p.G903R

c.2707G>C

1 paper

NM_001346258.2

p.G903R

c.2707G>A

1 paper

NM_001346252.4

p.D940delFs

c.2818delC

1 paper

NM_001346258.2

p.R808G

c.2422A>G

1 paper

NM_020886.4

p.R808G

c.2422A>G

1 paper

NM_001346258.2

p.H771Y

c.2311C>T

1 paper

NM_001346258.2

p.E933K

c.2797G>A

1 paper

NM_001346258.2

p.D936N

c.2806G>A

1 paper

NM_001346258.2

p.P953L

c.2858C>T

1 paper

NM_001346252.4

p.A847T

c.2539G>A

1 paper

NM_001346252.4

p.S834_P835insFs

c.2502_2503insA

1 paper

NM_001346258.2

p.D1003fs

c.3007_3008fs