Varaico: Literature-Extracted Genetic Variants

Gene:SP1
Variant:p.Q436*

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
10 papers
NM_138473.3
p.Q436*
c.1306C>T
Surrounding Variants
1 paper
NM_138473.3
p.N437D
c.1309A>G
3 papers
NM_138473.3
p.E433A
c.1298A>C
1 paper
NM_138473.3
p.L438L
c.1314C>A
1 paper
NM_138473.3
p.Q432E
c.1294C>G
1 paper
NM_138473.3
p.L440V
c.1318C>G
1 paper
NM_138473.3
p.S431P
c.1291T>C
3 papers
NM_138473.3
p.S431A
c.1291T>G
1 paper
NM_138473.3
p.A429P
c.1285G>C
1 paper
NM_138473.3
p.P444Q
c.1331C>A
2 papers
NM_138473.3
p.T427A
c.1279A>G
1 paper
NM_138473.3
p.S421S
c.1263A>G
1 paper
NM_138473.3
p.I450S
c.1349T>G
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