Varaico: Literature-Extracted Genetic Variants

Gene:ADPRHL1

ADPRHL1

72 papers

RefSeq Summary

ADP-ribosylation is a reversible posttranslational modification used to regulate protein function. ADP-ribosyltransferases (see ART1; MIM 601625) transfer ADP-ribose from NAD+ to the target protein, a...

Pfam Domains

ADP_ribosyl_GHaa 6–328UCSCADP-ribosylglycohydrolase

Gene Aliases

HGNC Name

ADP-ribosylhydrolase like 1

HGNC Alias Symbol

ARH2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 79 variants
6 papers
NM_001394807.1
p.L294R
c.881T>G
4 papers
NM_001394807.1
p.M61T
c.182T>C
3 papers
NM_001394807.1
p.K244delFs
c.732delT
2 papers
NM_001394807.1
p.Y115F
c.344A>T
2 papers
NM_001394807.1
p.A344T
c.1030G>A
2 papers
NM_001394807.1
p.K507ins1
c.1519_1520insCTT
2 papers
NM_001394807.1
p.N970delFs
c.2909_2910delAT
1 paper
NM_001394807.1
p.M1L
c.1A>C
1 paper
NM_001394807.1
p.K3I
c.8A>T
1 paper
NM_001394807.1
p.K3T
c.8A>C
1 paper
NM_001394807.1
p.A7V
c.20C>T
1 paper
NM_001394807.1
p.A7A
c.21G>A
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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."