Varaico: Literature-Extracted Genetic Variants

Gene:ADPRS

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
1–12 of 101 variants
11 papers
NM_017825.3
p.T79P
c.235A>C
11 papers
NM_017825.3
p.V335G
c.1004T>G
9 papers
NM_017825.3
p.S177L
c.530C>T
9 papers
NM_017825.3
p.Q334*
c.1000C>T
8 papers
NM_017825.3
p.P138_R140delFs
c.414_418del5
7 papers
NM_017825.3
p.D34N
c.100G>A
7 papers
NM_017825.3
p.Q106*
c.316C>T
6 papers
NM_017825.3
p.V98delFs
c.292delG
6 papers
NM_017825.3
p.R103Splc
c.309-1G>T
6 papers
NM_017825.3
p.Y346*
c.1038C>G
5 papers
NM_017825.3
p.C26F
c.77G>T
5 papers
NM_017825.3
p.Q56*
c.166C>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."