Varaico: Literature-Extracted Genetic Variants

Gene:SP3
Variant:p.A15A

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.A15A
c.45C>T
Surrounding Variants
2 papers
NM_003111.5
p.M13R
c.38T>G
1 paper
NM_003111.5
p.E12K
c.34G>A
1 paper
NM_003111.5
p.E11*
c.31G>T
1 paper
NM_003111.5
p.K9_Q10del2
c.25_29del6
1 paper
NM_003111.5
p.G22G
c.66C>G
1 paper
NM_003111.5
p.G23S
c.67G>A
1 paper
NM_003111.5
p.G23D
c.68G>A
1 paper
NM_003111.5
p.G26S
c.76G>A
1 paper
NM_003111.5
p.A3_P4delFs
c.9_10delGA
1 paper
NM_003111.5
p.G27_G29del0
c.79_87del9
1 paper
NM_003111.5
p.H30P
c.89A>C
1 paper
NM_003111.5
p.G31S
c.91G>A
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