Varaico: Literature-Extracted Genetic Variants

Gene:ADPRS
Variant:p.E344D

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
1 paper
NM_017825.3
p.E344D
c.1032A>C
Surrounding Variants
1 paper
NM_017825.3
p.E344D
c.1032A>T
1 paper
NM_017825.3
p.E344G
c.1031A>G
3 papers
NM_017825.3
p.Y346*
c.1038C>A
6 papers
NM_017825.3
p.Y346*
c.1038C>G
1 paper
NM_017825.3
p.Q340_Q341del2
c.1018_1022del6
1 paper
NM_017825.3
p.L352M
c.1054C>A
11 papers
NM_017825.3
p.V335G
c.1004T>G
9 papers
NM_017825.3
p.Q334*
c.1000C>T
1 paper
NM_017825.3
p.T317A
c.949A>G
1 paper
NM_017825.3
p.D316A
c.947A>C
1 paper
NM_017825.3
p.T315A
c.943A>G
1 paper
NM_017825.3
p.D314E
c.942C>A
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