Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.K4R

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.K4R
c.11A>G
Surrounding Variants
2 papers
NM_007262.5
p.K4insFs
c.12dupA
1 paper
NM_007262.5
p.S3_K4insFs
c.9_10insT
1 paper
NM_007262.5
p.S3Y
c.8C>A
2 papers
NM_007262.5
p.S3insFs
c.8_9insA
1 paper
NM_007262.5
p.S3F
c.8C>T
1 paper
NM_007262.5
p.A6insFs
c.16_17insG
1 paper
NM_007262.5
p.S3fs
c.7_8fs
2 papers
NM_007262.5
p.A6T
c.16G>A
1 paper
NM_007262.5
p.S3insFs
c.7dupT
1 paper
NM_007262.5
p.A6insFs
c.17_18insT
2 papers
NM_007262.5
p.A2V
c.5C>T
2 papers
NM_007262.5
p.A2insFs
c.5dupC
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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."