Varaico: Literature-Extracted Genetic Variants

Gene:ADPRS
Variant:p.G268Splc

ADPRS

84 papers

RefSeq Summary

This gene encodes a member of the ADP-ribosylglycohydrolase family. The encoded enzyme catalyzes the removal of ADP-ribose from ADP-ribosylated proteins. This enzyme localizes to the mitochondria, in ...

Pfam Domains

ADP_ribosyl_GHaa 25–338UCSCADP-ribosylglycohydrolase

Gene Aliases

HGNC Name

ADP-ribosylserine hydrolase

HGNC Previous Symbol

ADPRHL2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_017825.3
p.G268Splc
c.803-1G>A
Surrounding Variants
5 papers
NM_017825.3
p.A280T
c.838G>A
1 paper
NM_017825.3
p.R286H
c.857G>A
1 paper
NM_017825.3
p.N299S
c.896A>G
1 paper
NM_017825.3
p.Y307F
c.920A>T
1 paper
NM_017825.3
p.I309F
c.925A>T
2 papers
NM_017825.3
p.D314A
c.941A>C
1 paper
NM_017825.3
p.D314E
c.942C>A
1 paper
NM_017825.3
p.D314E
c.942C>G
1 paper
NM_017825.3
p.T315A
c.943A>G
1 paper
NM_017825.3
p.D316A
c.947A>C
1 paper
NM_017825.3
p.T317A
c.949A>G
9 papers
NM_017825.3
p.Q334*
c.1000C>T
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