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.L341F

c.1021C>T

Surrounding Variants

1 paper

NM_001346252.4

p.L342F

c.1024C>T

1 paper

NM_001346252.4

p.S344A

c.1030T>G

1 paper

NM_001346252.4

p.S344C

c.1031C>G

2 papers

NM_001346252.4

p.D345N

c.1033G>A

1 paper

NM_001346252.4

p.E336*

c.1006G>T

1 paper

NM_001346252.4

p.S347A

c.1039T>G

1 paper

NM_001346252.4

p.N325S

c.974A>G

1 paper

NM_001346252.4

p.L318F

c.952C>T

1 paper

NM_001346252.4

p.Q315K

c.943C>A

1 paper

NM_001346252.4

p.Y293C

c.878A>G

1 paper

NM_001346252.4

p.Q290H

c.870G>T

1 paper

NM_001346252.4

p.Q290H

c.870G>C