Varaico: Literature-Extracted Genetic Variants

Gene:ADPRHL1
Variant:p.G1719E

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
Selected Variant
1 paper
NM_001394807.1
p.G1719E
c.5156G>A
Surrounding Variants
1 paper
NM_001394807.1
p.E1722fs
c.5164_5165fs
1 paper
NM_001394807.1
p.A1724fs
c.5170_5171fs
1 paper
NM_001394807.1
p.R1711fs
c.5131_5132fs
1 paper
NM_001394807.1
p.A1748V
c.5243C>T
1 paper
NM_001394807.1
p.V1500A
c.4499T>C
1 paper
NM_001394807.1
p.R1497Q
c.4490G>A
1 paper
NM_001394807.1
p.T1962M
c.5885C>T
1 paper
NM_001394807.1
p.R1453W
c.4357C>T
1 paper
NM_001394807.1
p.Q1441*
c.4321C>T
1 paper
NM_001394807.1
p.A1346_P1358del0
c.4038_4073del36
1 paper
NM_001394807.1
p.R1354P
c.4061G>C
1 paper
NM_001394807.1
p.R1333Q
c.3998G>A
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