Varaico: Literature-Extracted Genetic Variants

Gene:USP18
Variant:p.C64S

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
9 papers
NM_017414.4
p.C64S
c.191G>C
Surrounding Variants
9 papers
NM_017414.4
p.C64S
c.190T>A
1 paper
NM_017414.4
p.C64R
c.190T>C
1 paper
NM_017414.4
p.C65S
c.193T>A
1 paper
NM_017414.4
p.C65R
c.193T>C
1 paper
NM_017414.4
p.T63I
c.188C>T
1 paper
NM_017414.4
p.C65S
c.194G>C
6 papers
NM_017414.4
p.I60N
c.179T>A
1 paper
NM_017414.4
p.N59S
c.176A>G
1 paper
NM_017414.4
p.N59I
c.176A>T
1 paper
NM_017414.4
p.T80I
c.239C>T
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."