Varaico: Literature-Extracted Genetic Variants

Gene:SP1
Variant:p.S120P

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.S120P
c.358T>C
Surrounding Variants
1 paper
NM_138473.3
p.T119N
c.356C>A
1 paper
NM_138473.3
p.K121R
c.362A>G
1 paper
NM_138473.3
p.P118P
c.354T>C
1 paper
NM_138473.3
p.E122K
c.364G>A
1 paper
NM_138473.3
p.E122D
c.366A>T
1 paper
NM_138473.3
p.Q123R
c.368A>G
1 paper
NM_138473.3
p.Q123H
c.369G>C
1 paper
NM_138473.3
p.Q123H
c.369G>T
1 paper
NM_138473.3
p.S124C
c.370A>T
1 paper
NM_138473.3
p.G115E
c.344G>A
1 paper
NM_138473.3
p.S124R
c.372T>A
1 paper
NM_138473.3
p.S124S
c.372T>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."