Varaico: Literature-Extracted Genetic Variants

Gene:UCHL1
Variant:p.E120A

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
2 papers
NM_004181.5
p.E120A
c.359A>C
Surrounding Variants
1 paper
NM_004181.5
p.T121R
c.362C>G
1 paper
NM_004181.5
p.L118I
c.352C>A
1 paper
NM_004181.5
p.F117fs
c.349_350fs
5 papers
NM_004181.5
p.M124L
c.370A>C
1 paper
NM_004181.5
p.M124V
c.370A>G
5 papers
NM_004181.5
p.M124L
c.370A>T
1 paper
NM_004181.5
p.Q116L
c.347A>T
1 paper
NM_004181.5
p.Q116_F117del2
c.346_350del6
3 papers
NM_004181.5
p.S125F
c.374C>T
2 papers
NM_004181.5
p.K115delFs
c.343delA
1 paper
NM_004181.5
p.L114P
c.341T>C
2 papers
NM_004181.5
p.E127A
c.380A>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."