Varaico: Literature-Extracted Genetic Variants

Gene:SP3
Variant:p.Q469*

SP3

148 papers

RefSeq Summary

This gene belongs to a family of Sp1 related genes that encode transcription factors that regulate transcription by binding to consensus GC- and GT-box regulatory elements in target genes. This protei...

Pfam Domains

zf-C2H2aa 621–645UCSCZinc finger, C2H2 type
zf-C2H2aa 651–675UCSCZinc finger, C2H2 type
zf-C2H2aa 681–703UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

Sp3 transcription factor

HGNC Alias Symbol

SPR-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003111.5
p.Q469*
c.1405C>T
Surrounding Variants
1 paper
NM_003111.5
p.V471F
c.1411G>T
1 paper
NM_003111.5
p.Q460Q
c.1380G>A
1 paper
NM_003111.5
p.G459V
c.1376G>T
1 paper
NM_003111.5
p.L449insFs
c.1346dupT
1 paper
NM_003111.5
p.T494I
c.1481C>T
1 paper
NM_003111.5
p.G498C
c.1492G>T
1 paper
NM_003111.5
p.A435A
c.1305T>G
1 paper
NM_003111.5
p.G503G
c.1509T>G
1 paper
NM_003111.5
p.T509P
c.1525A>C
1 paper
NM_003111.5
p.A426T
c.1276G>A
1 paper
NM_003111.5
p.V424V
c.1272G>T
1 paper
NM_003111.5
p.V424M
c.1270G>A
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