Varaico: Literature-Extracted Genetic Variants

Gene:SP1
Variant:p.I204I

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
1 paper
NM_138473.3
p.I204I
c.612A>T
Surrounding Variants
1 paper
NM_138473.3
p.I206L
c.616A>C
1 paper
NM_138473.3
p.I207M
c.621A>G
1 paper
NM_138473.3
p.P208A
c.622C>G
1 paper
NM_138473.3
p.G209R
c.625G>C
1 paper
NM_138473.3
p.G209A
c.626G>C
1 paper
NM_138473.3
p.G200C
c.598G>T
1 paper
NM_138473.3
p.D199D
c.597T>C
1 paper
NM_138473.3
p.D199G
c.596A>G
1 paper
NM_138473.3
p.A210E
c.629C>A
1 paper
NM_138473.3
p.Q198K
c.592C>A
1 paper
NM_138473.3
p.Q212K
c.634C>A
1 paper
NM_138473.3
p.V196M
c.586G>A
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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."