Varaico: Literature-Extracted Genetic Variants

Gene:SP2
Variant:p.T153I

SP2

168 papers

RefSeq Summary

This gene encodes a member of the Sp subfamily of Sp/XKLF transcription factors. Sp family proteins are sequence-specific DNA-binding proteins characterized by an amino-terminal trans-activation domai...

Pfam Domains

zf-C2H2aa 525–549UCSCZinc finger, C2H2 type
zf-C2H2aa 555–579UCSCZinc finger, C2H2 type
zf-C2H2aa 585–607UCSCZinc finger, C2H2 type

Gene Aliases

HGNC Name

Sp2 transcription factor

HGNC Alias Symbol

KIAA0048

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_003110.6
p.T153I
c.458C>T
Surrounding Variants
1 paper
NM_003110.6
p.T168I
c.503C>T
1 paper
NM_003110.6
p.I138L
c.412A>C
1 paper
NM_003110.6
p.V135V
c.405C>G
1 paper
NM_003110.6
p.Q131L
c.392A>T
1 paper
NM_003110.6
p.V177L
c.529G>C
1 paper
NM_003110.6
p.S126T
c.376T>A
1 paper
NM_003110.6
p.T124T
c.372C>G
1 paper
NM_003110.6
p.G123E
c.368G>A
1 paper
NM_003110.6
p.K122I
c.365A>T
1 paper
NM_003110.6
p.I120I
c.360C>A
1 paper
NM_003110.6
p.M119I
c.357G>A
1 paper
NM_003110.6
p.I114V
c.340A>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."