Varaico: Literature-Extracted Genetic Variants

Gene:SP1
Variant:p.G103D

SP1

825 papers

RefSeq Summary

The protein encoded by this gene is a zinc finger transcription factor that binds to GC-rich motifs of many promoters. The encoded protein is involved in many cellular processes, including cell differ...

Pfam Domains

zf-C2H2aa 626–650UCSCZinc finger, C2H2 type
zf-C2H2aa 626–650UCSCZinc finger, C2H2 type
zf-C2H2aa 656–680UCSCZinc finger, C2H2 type
zf-C2H2aa 656–680UCSCZinc finger, C2H2 type
zf-C2H2aa 686–708UCSCZinc finger, C2H2 type
zf-C2H2aa 686–708UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

Sp1 transcription factor

HGNC Alias Name

specificity protein 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_138473.3
p.G103D
c.308G>A
Surrounding Variants
7 papers
NM_138473.3
p.G103G
c.309T>G
1 paper
NM_138473.3
p.S101S
c.303A>G
7 papers
NM_138473.3
p.S101A
c.301T>G
2 papers
NM_138473.3
p.G106G
c.318C>G
1 paper
NM_138473.3
p.G106G
c.318C>T
1 paper
NM_138473.3
p.Q108insFs
c.323_324ins10
3 papers
NM_138473.3
p.T98A
c.292A>G
1 paper
NM_138473.3
p.A97A
c.291C>T
1 paper
NM_138473.3
p.I109N
c.326T>A
1 paper
NM_138473.3
p.I109S
c.326T>G
1 paper
NM_138473.3
p.A97P
c.289G>C
1 paper
NM_138473.3
p.A97S
c.289G>T
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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."