Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.M26I

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
117 papers
NM_007262.5
p.M26I
c.78G>C
Surrounding Variants
118 papers
NM_007262.5
p.M26I
c.78G>A
117 papers
NM_007262.5
p.M26I
c.78G>T
1 paper
NM_007262.5
p.R27W
c.79A>T
1 paper
NM_007262.5
p.R27delFs
c.80_81delGG
1 paper
NM_007262.5
p.M26_R27insFs
c.78_79insG
5 papers
NM_007262.5
p.M26L
c.76A>C
2 papers
NM_007262.5
p.M26V
c.76A>G
5 papers
NM_007262.5
p.M26L
c.76A>T
1 paper
NM_007262.5
p.R27K
c.80G>A
4 papers
NM_007262.5
p.R28*
c.82C>T
6 papers
NM_007262.5
p.R28Q
c.83G>A
1 paper
NM_007262.5
p.V25I
c.73G>A
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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."