Varaico: Literature-Extracted Genetic Variants

Gene:USP18
Variant:p.H255Q

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.H255Q
c.765C>A
Surrounding Variants
1 paper
NM_017414.4
p.H255Q
c.765C>G
1 paper
NM_017414.4
p.R258*
c.772C>T
1 paper
NM_017414.4
p.R258L
c.773G>T
1 paper
NM_017414.4
p.P249S
c.745C>T
1 paper
NM_017414.4
p.T266M
c.797C>T
1 paper
NM_017414.4
p.S278N
c.833G>A
1 paper
NM_017414.4
p.C230*
c.690T>A
4 papers
NM_017414.4
p.Q218*
c.652C>T
1 paper
NM_017414.4
p.L209_E210Splc
c.628-1G>A
1 paper
NM_017414.4
p.S298F
c.893C>T
1 paper
NM_017414.4
p.Q301*
c.901C>T
1 paper
NM_017414.4
p.Y302*
c.906T>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."