Varaico: Literature-Extracted Genetic Variants

Gene:UCHL1
Variant:p.I139V

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.I139V
c.415A>G
Surrounding Variants
1 paper
NM_004181.5
p.A138G
c.413C>G
1 paper
NM_004181.5
p.Q140E
c.418C>G
1 paper
NM_004181.5
p.Q140*
c.418C>T
8 papers
NM_004181.5
p.A141S
c.421G>T
2 papers
NM_004181.5
p.A147A
c.441A>T
2 papers
NM_004181.5
p.E149A
c.446A>C
4 papers
NM_004181.5
p.C152S
c.454T>A
4 papers
NM_004181.5
p.C152S
c.455G>C
1 paper
NM_004181.5
p.C152F
c.455G>T
1 paper
NM_004181.5
p.R153W
c.457C>T
3 papers
NM_004181.5
p.R153_V154Splc
c.459+2T>C
1 paper
NM_004181.5
p.C132W
c.396C>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."