Varaico: Literature-Extracted Genetic Variants

Gene:ADPRHL1
Variant:p.R947*

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.R947*
c.2839A>T
Surrounding Variants
1 paper
NM_001394807.1
p.R925insFs
c.2774_2775ins4
2 papers
NM_001394807.1
p.N970delFs
c.2909_2910delAT
1 paper
NM_001394807.1
p.P920Q
c.2759C>A
1 paper
NM_001394807.1
p.L1100V
c.3298T>G
1 paper
NM_001394807.1
p.T764A
c.2290A>G
1 paper
NM_001394807.1
p.G1173ins1
c.3518_3519insTTT
1 paper
NM_001394807.1
p.M694T
c.2081T>C
1 paper
NM_001394807.1
p.P1288delins
c.3864delinsTCGGGAACAGGCCCAGAAAGGGGCTCAGGAACGGGCT
1 paper
NM_001394807.1
p.G1325E
c.3974G>A
1 paper
NM_001394807.1
p.R1333Q
c.3998G>A
1 paper
NM_001394807.1
p.F555L
c.1665C>G
1 paper
NM_001394807.1
p.F555L
c.1665C>A
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