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.K45_A46Splc

c.135+136C>A

Surrounding Variants

1 paper

NM_001346252.4

p.F39C

c.116T>G

1 paper

NM_001346252.4

p.D36E

c.108C>G

1 paper

NM_001346252.4

p.D36E

c.108C>A

1 paper

NM_001346252.4

p.I31M

c.93C>G

1 paper

NM_001346252.4

p.E30D

c.90A>C

1 paper

NM_001346252.4

p.E30V

c.89A>T

1 paper

NM_001346252.4

p.A46S

c.136G>T

1 paper

NM_001346252.4

p.A46P

c.136G>C

1 paper

NM_001346252.4

p.A46V

c.137C>T

1 paper

NM_001346252.4

p.N48Y

c.142A>T

1 paper

NM_001346252.4

p.D60_E61insFs

c.180_181insCA

1 paper

NM_001346252.4

p.E61fs

c.181_182fs