Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.P54S

PARK7

1,146 papers

RefSeq Summary

The product of this gene belongs to the peptidase C56 family of proteins. It acts as a positive regulator of androgen receptor-dependent transcription. It may also function as a redox-sensitive chaper...

Pfam Domains

DJ-1_PfpIaa 4–171UCSCDJ-1/PfpI family

Gene Aliases

HGNC Name

Parkinsonism associated deglycase

HGNC Alias Symbols

DJ-1; DJ1; GATD2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_007262.5
p.P54S
c.160C>T
Surrounding Variants
1 paper
NM_007262.5
p.P54T
c.160C>A
1 paper
NM_007262.5
p.P54H
c.161C>A
1 paper
NM_007262.5
p.C53W
c.159T>G
4 papers
NM_007262.5
p.C53S
c.158G>C
4 papers
NM_007262.5
p.C53S
c.157T>A
2 papers
NM_007262.5
p.A56T
c.166G>A
2 papers
NM_007262.5
p.A56P
c.166G>C
13 papers
NM_007262.5
p.A56_K62ins2
c.168_185dup18
3 papers
NM_007262.5
p.I52delFs
c.154delA
19 papers
NM_007262.5
p.A56_K62del0
c.168_185del18
3 papers
NM_007262.5
p.V51A
c.152T>C
1 paper
NM_007262.5
p.V51G
c.152T>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."