Varaico: Literature-Extracted Genetic Variants

Gene:SP1
Variant:p.K16R

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.K16R
c.47A>G
Surrounding Variants
1 paper
NM_138473.3
p.I17F
c.49A>T
1 paper
NM_138473.3
p.V15V
c.45G>A
1 paper
NM_138473.3
p.V15A
c.44T>C
2 papers
NM_138473.3
p.E18K
c.52G>A
1 paper
NM_138473.3
p.V14V
c.42G>A
1 paper
NM_138473.3
p.E18V
c.53A>T
1 paper
NM_138473.3
p.K19R
c.56A>G
1 paper
NM_138473.3
p.G20_G26insFs
c.59_77dup19
1 paper
NM_138473.3
p.A13T
c.37G>A
1 paper
NM_138473.3
p.A13S
c.37G>T
1 paper
NM_138473.3
p.T12T
c.36A>G
1 paper
NM_138473.3
p.G20R
c.58G>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."