Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.T19delFs

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
8 papers
NM_007262.5
p.T19delFs
c.56delC
Surrounding Variants
2 papers
NM_007262.5
p.T19fs
c.55_56fs
1 paper
NM_007262.5
p.T19K
c.56C>A
1 paper
NM_007262.5
p.T19R
c.56C>G
1 paper
NM_007262.5
p.T19M
c.56C>T
1 paper
NM_007262.5
p.T19Fs
c.56_57delinsAFs
10 papers
NM_007262.5
p.E18D
c.54G>C
10 papers
NM_007262.5
p.E18D
c.54G>T
11 papers
NM_007262.5
p.E18A
c.53A>C
1 paper
NM_007262.5
p.E18G
c.53A>G
75 papers
NM_007262.5
p.E18V
c.53A>T
8 papers
NM_007262.5
p.T19T
c.57G>A
1 paper
NM_007262.5
p.T19_V20insFs
c.57_58insGC
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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."