Varaico: Literature-Extracted Genetic Variants

Gene:SP1
Variant:p.G184R

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.G184R
c.550G>A
Surrounding Variants
1 paper
NM_138473.3
p.D183E
c.549T>A
1 paper
NM_138473.3
p.D183E
c.549T>G
1 paper
NM_138473.3
p.D183A
c.548A>C
1 paper
NM_138473.3
p.D183G
c.548A>G
1 paper
NM_138473.3
p.Q186H
c.558G>T
1 paper
NM_138473.3
p.Q180*
c.538C>T
2 papers
NM_138473.3
p.T192A
c.574A>G
2 papers
NM_138473.3
p.G193G
c.579G>T
1 paper
NM_138473.3
p.A194T
c.580G>A
2 papers
NM_138473.3
p.Q195*
c.583C>T
1 paper
NM_138473.3
p.V196M
c.586G>A
1 paper
NM_138473.3
p.Q198K
c.592C>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."