Varaico: Literature-Extracted Genetic Variants

Gene:UCHL1
Variant:p.C90S

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
20 papers
NM_004181.5
p.C90S
c.269G>C
Surrounding Variants
20 papers
NM_004181.5
p.C90S
c.268T>A
158 papers
NM_004181.5
p.I93M
c.279C>G
1 paper
NM_004181.5
p.G94R
c.280G>A
2 papers
NM_004181.5
p.G87insFs
c.260_261dupGG
1 paper
NM_004181.5
p.I86V
c.256A>G
1 paper
NM_004181.5
p.I86delFs
c.256delA
1 paper
NM_004181.5
p.I96I
c.288T>A
1 paper
NM_004181.5
p.H97N
c.289C>A
4 papers
NM_004181.5
p.H97D
c.289C>G
1 paper
NM_004181.5
p.H97Q
c.291C>A
1 paper
NM_004181.5
p.H97Q
c.291C>G
1 paper
NM_004181.5
p.A98G
c.293C>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."