Varaico: Literature-Extracted Genetic Variants

Gene:UCHL1
Variant:p.L193M

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.L193M
c.577C>A
Surrounding Variants
1 paper
NM_004181.5
p.L193fs
c.577_578fs
1 paper
NM_004181.5
p.L193delFs
c.577delC
1 paper
NM_004181.5
p.L194P
c.581T>C
2 papers
NM_004181.5
p.D191A
c.572A>C
1 paper
NM_004181.5
p.N184_H185delFs
c.552_555del4
1 paper
NM_004181.5
p.V183V
c.549G>C
12 papers
NM_004181.5
p.R178Q
c.533G>A
3 papers
NM_004181.5
p.R178*
c.532C>T
1 paper
NM_004181.5
p.D176Splc
c.527-1G>A
2 papers
NM_004181.5
p.D176A
c.527A>C
3 papers
NM_004181.5
p.D176N
c.526G>A
2 papers
NM_004181.5
p.E174A
c.521A>C
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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."