Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.A56P

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
2 papers
NM_007262.5
p.A56P
c.166G>C
Surrounding Variants
2 papers
NM_007262.5
p.A56T
c.166G>A
13 papers
NM_007262.5
p.A56_K62ins2
c.168_185dup18
19 papers
NM_007262.5
p.A56_K62del0
c.168_185del18
3 papers
NM_007262.5
p.S57R
c.169A>C
1 paper
NM_007262.5
p.S57T
c.170G>C
1 paper
NM_007262.5
p.S57I
c.170G>T
3 papers
NM_007262.5
p.S57R
c.171C>A
1 paper
NM_007262.5
p.P54H
c.161C>A
3 papers
NM_007262.5
p.S57R
c.171C>G
1 paper
NM_007262.5
p.P54T
c.160C>A
1 paper
NM_007262.5
p.P54S
c.160C>T
1 paper
NM_007262.5
p.C53W
c.159T>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."