Varaico: Literature-Extracted Genetic Variants

Gene:SP1
Variant:p.L63L

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.L63L
c.189G>T
Surrounding Variants
3 papers
NM_138473.3
p.L63P
c.188T>C
2 papers
NM_138473.3
p.L63insFs
c.187_188ins5
2 papers
NM_138473.3
p.A66S
c.196G>T
1 paper
NM_138473.3
p.L61V
c.181T>G
1 paper
NM_138473.3
p.P60T
c.178C>A
1 paper
NM_138473.3
p.C68_I71del4
c.202_212del12
1 paper
NM_138473.3
p.S59S
c.177C>G
1 paper
NM_138473.3
p.S59F
c.176C>T
1 paper
NM_138473.3
p.S59T
c.175T>A
2 papers
NM_138473.3
p.S59A
c.175T>G
1 paper
NM_138473.3
p.P58T
c.172C>A
1 paper
NM_138473.3
p.S69N
c.206G>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."