Varaico: Literature-Extracted Genetic Variants

Gene:ADPRH
Variant:p.D280N

ADPRH

41 papers

RefSeq Summary

The enzyme encoded by this gene catalyzes removal of mono-ADP-ribose from arginine residues of proteins in the ADP-ribosylation cycle. Unlike the rat and mouse enzymes that require DTT for maximal act...

Pfam Domains

ADP_ribosyl_GHaa 6–326UCSCADP-ribosylglycohydrolase

Gene Aliases

HGNC Name

ADP-ribosylarginine hydrolase

HGNC Alias Symbol

ARH1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001125.4
p.D280N
c.838G>A
Surrounding Variants
3 papers
NM_001125.4
p.W266*
c.798G>A
3 papers
NM_001125.4
p.W266*
c.797G>A
2 papers
NM_001125.4
p.R295*
c.883C>T
1 paper
NM_001125.4
p.R295Q
c.884G>A
1 paper
NM_001125.4
p.R295L
c.884G>T
1 paper
NM_001125.4
p.F257L
c.771C>A
1 paper
NM_001125.4
p.F257L
c.771C>G
1 paper
NM_001125.4
p.F257L
c.769T>C
1 paper
NM_001125.4
p.Q256H
c.768G>C
1 paper
NM_001125.4
p.Q256H
c.768G>T
1 paper
NM_001125.4
p.T306A
c.916A>G
1 paper
NM_001125.4
p.E253*
c.757G>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."