Varaico: Literature-Extracted Genetic Variants

Gene:UCHL1
Variant:p.D176A

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.D176A
c.527A>C
Surrounding Variants
3 papers
NM_004181.5
p.D176N
c.526G>A
2 papers
NM_004181.5
p.E174A
c.521A>C
2 papers
NM_004181.5
p.D169A
c.506A>C
1 paper
NM_004181.5
p.N167K
c.501C>A
1 paper
NM_004181.5
p.N167S
c.500A>G
1 paper
NM_004181.5
p.F165L
c.495T>A
1 paper
NM_004181.5
p.F165L
c.495T>G
1 paper
NM_004181.5
p.F165L
c.493T>C
1 paper
NM_004181.5
p.H161Q
c.483T>A
1 paper
NM_004181.5
p.H161Q
c.483T>G
1 paper
NM_004181.5
p.H161N
c.481C>A
2 papers
NM_004181.5
p.H161D
c.481C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."