Varaico: Literature-Extracted Genetic Variants

Gene:SP1
Variant:p.I505insFs

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.I505insFs
c.1513_1514insT
Surrounding Variants
2 papers
NM_138473.3
p.P504S
c.1510C>T
1 paper
NM_138473.3
p.L502F
c.1504C>T
1 paper
NM_138473.3
p.S496R
c.1486A>C
1 paper
NM_138473.3
p.T495T
c.1485C>T
2 papers
NM_138473.3
p.V516F
c.1546G>T
1 paper
NM_138473.3
p.V516V
c.1548C>A
3 papers
NM_138473.3
p.A521V
c.1562C>T
1 paper
NM_138473.3
p.A521A
c.1563T>A
1 paper
NM_138473.3
p.L523F
c.1567C>T
1 paper
NM_138473.3
p.P477P
c.1431A>G
1 paper
NM_138473.3
p.P477T
c.1429C>A
1 paper
NM_138473.3
p.N476Y
c.1426A>T
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