Varaico: Literature-Extracted Genetic Variants

Gene:USP18
Variant:p.Q115Q

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.Q115Q
c.345G>A
Surrounding Variants
1 paper
NM_017414.4
p.R119W
c.355C>T
1 paper
NM_017414.4
p.P120S
c.358C>T
1 paper
NM_017414.4
p.E108V
c.323A>T
1 paper
NM_017414.4
p.C130Y
c.389G>A
1 paper
NM_017414.4
p.V132M
c.394G>A
1 paper
NM_017414.4
p.V132L
c.394G>C
1 paper
NM_017414.4
p.L134L
c.400T>C
1 paper
NM_017414.4
p.R96K
c.287G>A
1 paper
NM_017414.4
p.Q95R
c.284A>G
1 paper
NM_017414.4
p.Q95delFs
c.284delA
1 paper
NM_017414.4
p.E94A
c.281A>C
1 paper
NM_017414.4
p.E94G
c.281A>G
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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."