Varaico: Literature-Extracted Genetic Variants

Gene:ADPRS
Variant:p.A158delFs

ADPRS

84 papers

RefSeq Summary

This gene encodes a member of the ADP-ribosylglycohydrolase family. The encoded enzyme catalyzes the removal of ADP-ribose from ADP-ribosylated proteins. This enzyme localizes to the mitochondria, in ...

Pfam Domains

ADP_ribosyl_GHaa 25–338UCSCADP-ribosylglycohydrolase

Gene Aliases

HGNC Name

ADP-ribosylserine hydrolase

HGNC Previous Symbol

ADPRHL2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_017825.3
p.A158delFs
c.472delG
Surrounding Variants
1 paper
NM_017825.3
p.S161P
c.481T>C
1 paper
NM_017825.3
p.N151insFs
c.452dupA
1 paper
NM_017825.3
p.Y164C
c.491A>G
1 paper
NM_017825.3
p.S165G
c.493A>G
1 paper
NM_017825.3
p.S148A
c.442T>G
1 paper
NM_017825.3
p.V167I
c.499G>A
1 paper
NM_017825.3
p.A139G
c.416C>G
4 papers
NM_017825.3
p.A139fs
c.415_416fs
1 paper
NM_017825.3
p.A139fs
c.415_416fs
8 papers
NM_017825.3
p.P138_R140delFs
c.414_418del5
1 paper
NM_017825.3
p.D134N
c.400G>A
1 paper
NM_017825.3
p.L127P
c.380T>C
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