Varaico: Literature-Extracted Genetic Variants

Gene:UCHL1
Variant:p.K199N

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.K199N
c.597G>C
Surrounding Variants
1 paper
NM_004181.5
p.K199N
c.597G>T
1 paper
NM_004181.5
p.A198T
c.592G>A
1 paper
NM_004181.5
p.R202*
c.604A>T
1 paper
NM_004181.5
p.E203A
c.608A>C
1 paper
NM_004181.5
p.K195_D196Splc
c.586-2A>G
1 paper
NM_004181.5
p.E206A
c.617A>C
1 paper
NM_004181.5
p.E208A
c.623A>C
1 paper
NM_004181.5
p.Q209*
c.625C>T
5 papers
NM_004181.5
p.G210del1
c.628_629delGGA
1 paper
NM_004181.5
p.E211*
c.631G>T
9 papers
NM_004181.5
p.A216D
c.647C>A
1 paper
NM_004181.5
p.V217M
c.649G>A
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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."