Varaico: Literature-Extracted Genetic Variants

Gene:USP18
Variant:p.C12delFs

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.C12delFs
c.35delG
Surrounding Variants
1 paper
NM_017414.4
p.C12ins1
c.35_36insGAA
1 paper
NM_017414.4
p.K3M
c.8A>T
3 papers
NM_017414.4
p.Q21K
c.61C>A
1 paper
NM_017414.4
p.A24delFs
c.72delA
1 paper
NM_017414.4
p.D25N
c.73G>A
1 paper
NM_017414.4
p.N35_M36insGAA
c.103_107ins9
1 paper
NM_017414.4
p.K37R
c.110A>G
1 paper
NM_017414.4
p.Q40*
c.118C>T
1 paper
NM_017414.4
p.P41S
c.121C>T
1 paper
NM_017414.4
p.R44H
c.131G>A
1 paper
NM_017414.4
p.P45S
c.133C>T
1 paper
NM_017414.4
p.A47G
c.140C>G
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