Varaico: Literature-Extracted Genetic Variants

Gene:PIAS3
Variant:p.E140K

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.E140K
c.418G>A
Surrounding Variants
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
1 paper
NM_006099.3
p.V113fs
c.337_338fs
1 paper
NM_006099.3
p.V113G
c.338T>G
1 paper
NM_006099.3
p.P103H
c.308C>A
1 paper
NM_006099.3
p.P90S
c.268C>T
1 paper
NM_006099.3
p.V87I
c.259G>A
1 paper
NM_006099.3
p.L75F
c.223C>T
2 papers
NM_006099.3
p.A158V
c.473C>T
1 paper
NM_006099.3
p.R67W
c.199C>T
2 papers
NM_006099.3
p.R63*
c.187C>T
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