Varaico: Literature-Extracted Genetic Variants

Gene:UCHL1
Variant:p.S18Y

UCHL1

495 papers

RefSeq Summary

The protein encoded by this gene belongs to the peptidase C12 family. This enzyme is a thiol protease that hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. This gene is specifically e...

Pfam Domains

Peptidase_C12aa 3–206UCSCUbiquitin carboxyl-terminal hydrolase, family 1

Gene Aliases

HGNC Name

ubiquitin C-terminal hydrolase L1

HGNC Previous Symbol

PARK5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
163 papers
NM_004181.5
p.S18Y
c.53C>A
Surrounding Variants
15 papers
NM_004181.5
p.S18S
c.54C>A
1 paper
NM_004181.5
p.R19R
c.55C>A
1 paper
NM_004181.5
p.R19W
c.55C>T
4 papers
NM_004181.5
p.R19R
c.57G>A
1 paper
NM_004181.5
p.V22insFs
c.64dupG
2 papers
NM_004181.5
p.Q25*
c.73C>T
1 paper
NM_004181.5
p.Q25Q
c.75G>A
1 paper
NM_004181.5
p.Q25H
c.75G>C
1 paper
NM_004181.5
p.V29delFs
c.87delG
1 paper
NM_004181.5
p.D30H
c.88G>C
2 papers
NM_004181.5
p.D30A
c.89A>C
1 paper
NM_004181.5
p.D30V
c.89A>T
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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."