Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.G30delFs

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.G30delFs
c.88delG
Surrounding Variants
3 papers
NM_007262.5
p.G30insFs
c.90dupG
2 papers
NM_007262.5
p.A29G
c.86C>G
1 paper
NM_007262.5
p.A29V
c.86C>T
2 papers
NM_007262.5
p.G30R
c.88G>A
4 papers
NM_007262.5
p.G30R
c.88G>C
1 paper
NM_007262.5
p.G30E
c.89G>A
1 paper
NM_007262.5
p.G30insFs
c.89_90ins8
1 paper
NM_007262.5
p.A29S
c.85G>T
1 paper
NM_007262.5
p.R28_A29insFs
c.84_85insGC
6 papers
NM_007262.5
p.R28Q
c.83G>A
4 papers
NM_007262.5
p.G30_I31Splc
c.90+1G>A
4 papers
NM_007262.5
p.R28*
c.82C>T
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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."