Varaico: Literature-Extracted Genetic Variants

Gene:ADPRS
Variant:p.V198_H199insFs

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.V198_H199insFs
c.594_597dup4
Surrounding Variants
1 paper
NM_017825.3
p.H199P
c.596A>C
5 papers
NM_017825.3
p.Q194*
c.580C>T
1 paper
NM_017825.3
p.N189S
c.566A>G
1 paper
NM_017825.3
p.S207F
c.620C>T
3 papers
NM_017825.3
p.Y188*
c.564C>A
3 papers
NM_017825.3
p.Y188*
c.564C>G
4 papers
NM_017825.3
p.E209K
c.625G>A
1 paper
NM_017825.3
p.S185P
c.553T>C
1 paper
NM_017825.3
p.L212fs
c.634_635fs
4 papers
NM_017825.3
p.L212_K213delFs
c.636_639del4
2 papers
NM_017825.3
p.K213fs
c.637_638fs
2 papers
NM_017825.3
p.H182Q
c.546C>A
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