Varaico: Literature-Extracted Genetic Variants

Gene:SP3
Variant:p.R596W

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.R596W
c.1786C>T
Surrounding Variants
1 paper
NM_003111.5
p.H589P
c.1766A>C
1 paper
NM_003111.5
p.V578L
c.1732G>T
1 paper
NM_003111.5
p.L568delFs
c.1702_1703delAA
2 papers
NM_003111.5
p.K551R
c.1652A>G
1 paper
NM_003111.5
p.R611S
c.1833A>T
1 paper
NM_003111.5
p.R611S
c.1833A>C
1 paper
NM_003111.5
p.K617E
c.1849A>G
1 paper
NM_003111.5
p.H621Y
c.1861C>T
1 paper
NM_003111.5
p.S636fs
c.1906_1907fs
1 paper
NM_003111.5
p.H645L
c.1934A>T
1 paper
NM_003111.5
p.N654T
c.1961A>C
1 paper
NM_003111.5
p.M656V
c.1966A>G
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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."