Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.M17L

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
3 papers
NM_007262.5
p.M17L
c.49A>C
Surrounding Variants
1 paper
NM_007262.5
p.M17V
c.49A>G
3 papers
NM_007262.5
p.M17L
c.49A>T
1 paper
NM_007262.5
p.E16D
c.48A>C
1 paper
NM_007262.5
p.E16D
c.48A>T
1 paper
NM_007262.5
p.M17T
c.50T>C
1 paper
NM_007262.5
p.E16A
c.47A>C
1 paper
NM_007262.5
p.E16G
c.47A>G
2 papers
NM_007262.5
p.M17I
c.51G>A
2 papers
NM_007262.5
p.M17I
c.51G>C
2 papers
NM_007262.5
p.M17I
c.51G>T
2 papers
NM_007262.5
p.E18K
c.52G>A
1 paper
NM_007262.5
p.E16K
c.46G>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."