Varaico: Literature-Extracted Genetic Variants

Gene:UCHL1

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
1–12 of 152 variants
163 papers
NM_004181.5
p.S18Y
c.53C>A
158 papers
NM_004181.5
p.I93M
c.279C>G
21 papers
NM_004181.5
p.E7A
c.20A>C
20 papers
NM_004181.5
p.C90S
c.268T>A
20 papers
NM_004181.5
p.C90S
c.269G>C
15 papers
NM_004181.5
p.S18S
c.54C>A
12 papers
NM_004181.5
p.R178Q
c.533G>A
9 papers
NM_004181.5
p.D30E
c.90C>A
9 papers
NM_004181.5
p.A216D
c.647C>A
8 papers
NM_004181.5
p.A141S
c.421G>T
5 papers
NM_004181.5
p.V31V
c.93G>A
5 papers
NM_004181.5
p.M124L
c.370A>C
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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."