Varaico: Literature-Extracted Genetic Variants

Gene:UCHL1
Variant:p.E74K

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
1 paper
NM_004181.5
p.E74K
c.220G>A
Surrounding Variants
1 paper
NM_004181.5
p.E74insFs
c.220_221insGT
1 paper
NM_004181.5
p.E74V
c.221A>T
1 paper
NM_004181.5
p.Q73R
c.218A>G
1 paper
NM_004181.5
p.Q73K
c.217C>A
2 papers
NM_004181.5
p.Q73*
c.217C>T
1 paper
NM_004181.5
p.G72R
c.214G>A
1 paper
NM_004181.5
p.K71R
c.212A>G
2 papers
NM_004181.5
p.E68A
c.203A>C
1 paper
NM_004181.5
p.F81V
c.241T>G
1 paper
NM_004181.5
p.K65R
c.194A>G
1 paper
NM_004181.5
p.I86delFs
c.256delA
1 paper
NM_004181.5
p.I86V
c.256A>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."