Varaico: Literature-Extracted Genetic Variants

Gene:PARK7
Variant:p.E64_G65Splc

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.E64_G65Splc
c.192+1G>C
Surrounding Variants
1 paper
NM_007262.5
p.E64_G65Splc
c.192+1G>A
1 paper
NM_007262.5
p.E64_G65Splc
c.192+1G>T
110 papers
NM_007262.5
p.E64D
c.192G>C
98 papers
NM_007262.5
p.E64D
c.192G>T
1 paper
NM_007262.5
p.E64K
c.190G>A
1 paper
NM_007262.5
p.E64fs
c.190_191fs
3 papers
NM_007262.5
p.E64fs
c.190_191fs
5 papers
NM_007262.5
p.K63R
c.188A>G
1 paper
NM_007262.5
p.E64delFs
c.191_192delAG
1 paper
NM_007262.5
p.K62R
c.185A>G
1 paper
NM_007262.5
p.A61A
c.183A>G
1 paper
NM_007262.5
p.A61E
c.182C>A
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