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.T516A

c.1546A>G

Surrounding Variants

1 paper

NM_001346252.4

p.S517A

c.1549T>G

1 paper

NM_001346252.4

p.S518A

c.1552T>G

1 paper

NM_001346252.4

p.S520A

c.1558T>G

1 paper

NM_001346252.4

p.S521A

c.1561T>G

1 paper

NM_001346252.4

p.S504A

c.1510T>G

1 paper

NM_001346252.4

p.S503A

c.1507T>G

1 paper

NM_001346252.4

p.D555Y

c.1663G>T

1 paper

NM_001346252.4

p.Q557*

c.1669C>T

1 paper

NM_001346252.4

p.T561T

c.1683T>C

1 paper

NM_001346252.4

p.Q568*

c.1702C>T

1 paper

NM_001346252.4

p.T566_T569del4

c.1696_1706del12

1 paper

NM_001346252.4

p.Q581*

c.1741C>T