Varaico: Literature-Extracted Genetic Variants

Gene:PIAS1
Variant:p.P123S

PIAS1

172 papers

RefSeq Summary

This gene encodes a member of the protein inhibitor of activated STAT (PIAS) family. PIAS proteins function as SUMO E3 ligases and play important roles in many cellular processes by mediating the sumo...

Pfam Domains

PINITaa 135–286UCSCPINIT domain
zf-MIZaa 331–380UCSCMIZ/SP-RING zinc finger

Gene Aliases

HGNC Name

protein inhibitor of activated STAT 1

HGNC Previous Symbol

DDXBP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_016166.3
p.P123S
c.367C>T
Surrounding Variants
1 paper
NM_016166.3
p.S127_A128ins1
c.381_382insATC
1 paper
NM_016166.3
p.K117K
c.351A>G
1 paper
NM_016166.3
p.P116H
c.347C>A
1 paper
NM_016166.3
p.L113F
c.337C>T
1 paper
NM_016166.3
p.I136I
c.408A>T
1 paper
NM_016166.3
p.S106S
c.318G>A
1 paper
NM_016166.3
p.S106L
c.317C>T
1 paper
NM_016166.3
p.S106insFs
c.316_317insC
1 paper
NM_016166.3
p.G101V
c.302G>T
1 paper
NM_016166.3
p.E149*
c.445G>T
1 paper
NM_016166.3
p.L89L
c.267G>A
1 paper
NM_016166.3
p.A87_S90delFs
c.261_268del8
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