Varaico: Literature-Extracted Genetic Variants

Gene:ADPRHL1
Variant:p.K244delFs

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
3 papers
NM_001394807.1
p.K244delFs
c.732delT
Surrounding Variants
1 paper
NM_001394807.1
p.A245fs
c.733_734fs
1 paper
NM_001394807.1
p.K244fs
c.730_731fs
1 paper
NM_001394807.1
p.S241*
c.722C>G
1 paper
NM_001394807.1
p.S241*
c.722C>A
1 paper
NM_001394807.1
p.E233V
c.698A>T
1 paper
NM_001394807.1
p.E257K
c.769G>A
1 paper
NM_001394807.1
p.Y223Y
c.669C>T
1 paper
NM_001394807.1
p.R271T
c.812G>C
1 paper
NM_001394807.1
p.R271K
c.812G>A
1 paper
NM_001394807.1
p.R272*
c.814C>T
1 paper
NM_001394807.1
p.R272del1
c.814_815delTCG
1 paper
NM_001394807.1
p.D275H
c.823G>C
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