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

2 papers

NM_001346252.4

p.A739V

c.2216C>T

Surrounding Variants

1 paper

NM_001346252.4

p.A739T

c.2215G>A

1 paper

NM_001346252.4

p.L734M

c.2200T>A

1 paper

NM_001346252.4

p.I741_E744del4

c.2221_2231del12

1 paper

NM_001346252.4

p.R732C

c.2194C>T

1 paper

NM_001346252.4

p.T753A

c.2257A>G

1 paper

NM_001346252.4

p.S714A

c.2140T>G

1 paper

NM_001346252.4

p.P704S

c.2110C>T

1 paper

NM_001346252.4

p.E689Q

c.2065G>C

1 paper

NM_001346252.4

p.Q682*

c.2044C>T

1 paper

NM_001346252.4

p.L677I

c.2029C>A

1 paper

NM_001346252.4

p.S834_P835insFs

c.2502_2503insA

1 paper

NM_001346252.4

p.A847T

c.2539G>A