Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.G174G

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.G174G
c.522C>T
Surrounding Variants
3 papers
NM_007262.5
p.K175E
c.523A>G
1 paper
NM_007262.5
p.G174D
c.521G>A
1 paper
NM_007262.5
p.K175R
c.524A>G
2 papers
NM_007262.5
p.E176A
c.527A>C
19 papers
NM_007262.5
p.L172Q
c.515T>A
1 paper
NM_007262.5
p.L172fs
c.514_515fs
1 paper
NM_007262.5
p.A171D
c.512C>A
1 paper
NM_007262.5
p.A178P
c.532G>C
1 paper
NM_007262.5
p.A178V
c.533C>T
1 paper
NM_007262.5
p.A179delFs
c.535delG
6 papers
NM_007262.5
p.A171S
c.511G>T
21 papers
NM_007262.5
p.A179T
c.535G>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."