Varaico: Literature-Extracted Genetic Variants

Gene:SP3
Variant:p.V253G

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.V253G
c.758T>G
Surrounding Variants
1 paper
NM_003111.5
p.L258F
c.772C>T
1 paper
NM_003111.5
p.G259R
c.775G>C
1 paper
NM_001017371.5
p.S176A
c.526T>G
1 paper
NM_003111.5
p.S244T
c.730T>A
1 paper
NM_003111.5
p.P268L
c.803C>T
1 paper
NM_003111.5
p.G238R
c.712G>C
2 papers
NM_003111.5
p.G238R
c.712G>A
1 paper
NM_003111.5
p.N270S
c.809A>G
1 paper
NM_003111.5
p.T231I
c.692C>T
1 paper
NM_003111.5
p.Q225P
c.674A>C
1 paper
NM_003111.5
p.Q284K
c.850C>A
1 paper
NM_003111.5
p.S221P
c.661T>C
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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."