Varaico: Literature-Extracted Genetic Variants

Gene:USP18
Variant:p.C320S

USP18

87 papers

RefSeq Summary

The protein encoded by this gene belongs to the ubiquitin-specific proteases (UBP) family of enzymes that cleave ubiquitin from ubiquitinated protein substrates. It is highly expressed in liver and th...

Pfam Domains

UCHaa 55–367UCSCUbiquitin carboxyl-terminal hydrolase

Gene Aliases

HGNC Name

ubiquitin specific peptidase 18

HGNC Previous Name

ubiquitin specific protease 18

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017414.4
p.C320S
c.958T>A
Surrounding Variants
1 paper
NM_017414.4
p.C320S
c.959G>C
1 paper
NM_017414.4
p.G317S
c.949G>A
1 paper
NM_017414.4
p.N325S
c.974A>G
1 paper
NM_017414.4
p.M313I
c.939G>A
1 paper
NM_017414.4
p.M313I
c.939G>C
1 paper
NM_017414.4
p.M313I
c.939G>T
1 paper
NM_017414.4
p.H310Q
c.930C>A
1 paper
NM_017414.4
p.H310Q
c.930C>G
1 paper
NM_017414.4
p.V307_I308insFs
c.921_922insT
1 paper
NM_017414.4
p.L304H
c.911T>A
1 paper
NM_017414.4
p.E303K
c.907G>A
1 paper
NM_017414.4
p.Y302*
c.906T>A
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