Varaico: Literature-Extracted Genetic Variants

Gene:ADPRS
Variant:p.D77A

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.D77A
c.230A>C
Surrounding Variants
5 papers
NM_017825.3
p.D77N
c.229G>A
4 papers
NM_017825.3
p.D78N
c.232G>A
1 paper
NM_017825.3
p.D78A
c.233A>C
11 papers
NM_017825.3
p.T79P
c.235A>C
2 papers
NM_017825.3
p.T79A
c.235A>G
1 paper
NM_017825.3
p.M81V
c.241A>G
1 paper
NM_017825.3
p.E71Splc
c.212-2A>G
1 paper
NM_017825.3
p.V86E
c.257T>A
1 paper
NM_017825.3
p.E93delFs
c.279delG
6 papers
NM_017825.3
p.V98delFs
c.292delG
2 papers
NM_017825.3
p.V98fs
c.292_293fs
1 paper
NM_017825.3
p.V98fs
c.292_293fs
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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."