Varaico: Literature-Extracted Genetic Variants

Gene:UCHL1
Variant:p.A48_L49del1

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.A48_L49del1
c.144_146delGCT
Surrounding Variants
1 paper
NM_004181.5
p.L52ins0
c.154_156dupCTG
1 paper
NM_004181.5
p.A46P
c.136G>C
1 paper
NM_004181.5
p.P45L
c.134C>T
1 paper
NM_004181.5
p.A44A
c.132G>C
1 paper
NM_004181.5
p.A44S
c.130G>T
1 paper
NM_004181.5
p.P43Q
c.128C>A
1 paper
NM_004181.5
p.P54S
c.160C>T
1 paper
NM_004181.5
p.V42V
c.126G>A
1 paper
NM_004181.5
p.T56M
c.167C>T
1 paper
NM_004181.5
p.L39delFs
c.116_117delTG
1 paper
NM_004181.5
p.S38T
c.112T>A
2 papers
NM_004181.5
p.E37A
c.110A>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."