Varaico: Literature-Extracted Genetic Variants

Gene:UCHL1
Variant:p.E7A

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
21 papers
NM_004181.5
p.E7A
c.20A>C
Surrounding Variants
1 paper
NM_004181.5
p.M6insFs
c.16_17insG
2 papers
NM_004181.5
p.E11A
c.32A>C
1 paper
NM_004181.5
p.Q2*
c.4C>T
1 paper
NM_004181.5
p.M1insFs
c.2_3insGT
1 paper
NM_004181.5
p.E11_M12Splc
c.34-3C>T
1 paper
NM_004181.5
p.L13V
c.37C>G
1 paper
NM_004181.5
p.K15_V16Splc
c.45+6T>C
2 papers
NM_004181.5
p.K15_V16Splc
c.45+25T>C
163 papers
NM_004181.5
p.S18Y
c.53C>A
15 papers
NM_004181.5
p.S18S
c.54C>A
1 paper
NM_004181.5
p.R19R
c.55C>A
1 paper
NM_004181.5
p.R19W
c.55C>T
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