Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.A167T

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.A167T
c.499G>A
Surrounding Variants
1 paper
NM_007262.5
p.A167G
c.500C>G
1 paper
NM_007262.5
p.A167V
c.500C>T
1 paper
NM_007262.5
p.A167del1
c.499_501delGCA
5 papers
NM_007262.5
p.A167A
c.501A>G
1 paper
NM_007262.5
p.L166H
c.497T>A
313 papers
NM_007262.5
p.L166P
c.497T>C
1 paper
NM_007262.5
p.L166R
c.497T>G
1 paper
NM_007262.5
p.I168V
c.502A>G
1 paper
NM_007262.5
p.L166V
c.496C>G
1 paper
NM_007262.5
p.L166del1
c.496_497delCTT
1 paper
NM_007262.5
p.I168T
c.503T>C
1 paper
NM_007262.5
p.A165V
c.494C>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."