Varaico: Literature-Extracted Genetic Variants

Gene:SP1
Variant:p.Q385R

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.Q385R
c.1154A>G
Surrounding Variants
1 paper
NM_138473.3
p.N391N
c.1173C>T
1 paper
NM_138473.3
p.G378D
c.1133G>A
1 paper
NM_138473.3
p.Q393*
c.1177C>T
1 paper
NM_138473.3
p.G377E
c.1130G>A
1 paper
NM_138473.3
p.G377R
c.1129G>A
2 papers
NM_138473.3
p.T394A
c.1180A>G
1 paper
NM_138473.3
p.T375A
c.1123A>G
2 papers
NM_138473.3
p.T375S
c.1123A>T
1 paper
NM_138473.3
p.Q396*
c.1186C>T
1 paper
NM_138473.3
p.Q397R
c.1190A>G
1 paper
NM_138473.3
p.Q398H
c.1194A>C
1 paper
NM_138473.3
p.Q372E
c.1114C>G
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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."