Varaico: Literature-Extracted Genetic Variants

Gene:PIAS3
Variant:p.G217R

PIAS3

90 papers

RefSeq Summary

This gene encodes a member of the PIAS [protein inhibitor of activated STAT (signal transducer and activator of transcription)] family of transcriptional modulators. The protein functions as a SUMO (s...

Pfam Domains

SAPaa 10–46UCSCSAP domain
PINITaa 126–278UCSCPINIT domain
zf-MIZaa 323–372UCSCMIZ/SP-RING zinc finger

Gene Aliases

HGNC Name

protein inhibitor of activated STAT 3

HGNC Alias Symbols

FLJ14651; ZMIZ5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006099.3
p.G217R
c.649G>C
Surrounding Variants
1 paper
NM_006099.3
p.G217R
c.649G>A
1 paper
NM_006099.3
p.K183R
c.548A>G
1 paper
NM_006099.3
p.R176G
c.526A>G
1 paper
NM_006099.3
p.R176G
c.526A>G
1 paper
NM_006099.3
p.S175_R176insFs
c.525_526ins7
1 paper
NM_006099.3
p.T174A
c.520A>G
2 papers
NM_006099.3
p.A158V
c.473C>T
1 paper
NM_006099.3
p.E140K
c.418G>A
1 paper
NM_006099.3
p.G224V
c.671G>T
1 paper
NM_006099.3
p.P131R
c.392C>G
1 paper
NM_006099.3
p.P125S
c.373C>T
1 paper
NM_006099.3
p.Q121*
c.361C>T
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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."