Varaico: Literature-Extracted Genetic Variants

Gene:SP1
Variant:p.N270S

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.N270S
c.809A>G
Surrounding Variants
1 paper
NM_138473.3
p.V269A
c.806T>C
1 paper
NM_138473.3
p.V269F
c.805G>T
1 paper
NM_138473.3
p.P268L
c.803C>T
1 paper
NM_138473.3
p.S273S
c.819T>C
1 paper
NM_138473.3
p.L266V
c.796T>G
1 paper
NM_138473.3
p.T265N
c.794C>A
2 papers
NM_138473.3
p.T276I
c.827C>T
1 paper
NM_138473.3
p.T278A
c.832A>G
1 paper
NM_138473.3
p.L260Q
c.779T>A
2 papers
NM_138473.3
p.S281A
c.841T>G
3 papers
NM_138473.3
p.A259G
c.776C>G
3 papers
NM_138473.3
p.Q282*
c.844C>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."