Varaico: Literature-Extracted Genetic Variants

Gene:ADPRS
Variant:p.N189S

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.N189S
c.566A>G
Surrounding Variants
3 papers
NM_017825.3
p.Y188*
c.564C>A
3 papers
NM_017825.3
p.Y188*
c.564C>G
1 paper
NM_017825.3
p.S185P
c.553T>C
5 papers
NM_017825.3
p.Q194*
c.580C>T
2 papers
NM_017825.3
p.H182Q
c.546C>A
2 papers
NM_017825.3
p.H182Q
c.546C>G
3 papers
NM_017825.3
p.H182R
c.545A>G
3 papers
NM_017825.3
p.H182Y
c.544C>T
1 paper
NM_017825.3
p.V198_H199insFs
c.594_597dup4
1 paper
NM_017825.3
p.H199P
c.596A>C
4 papers
NM_017825.3
p.Q179*
c.535C>T
9 papers
NM_017825.3
p.S177L
c.530C>T
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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."