Varaico: Literature-Extracted Genetic Variants

Gene:SP2
Variant:p.Q31L

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.Q31L
c.92A>T
Surrounding Variants
1 paper
NM_003110.6
p.Q31insFs
c.91_92insT
1 paper
NM_003110.6
p.S33T
c.97T>A
1 paper
NM_003110.6
p.S33A
c.97T>G
1 paper
NM_003110.6
p.L37Q
c.110T>A
1 paper
NM_003110.6
p.A39delFs
c.116delC
1 paper
NM_003110.6
p.A39V
c.116C>T
1 paper
NM_003110.6
p.A40V
c.119C>T
1 paper
NM_003110.6
p.G46D
c.137G>A
1 paper
NM_003110.6
p.P47H
c.140C>A
1 paper
NM_003110.6
p.E51G
c.152A>G
1 paper
NM_003110.6
p.Q61R
c.182A>G
1 paper
NM_003110.6
p.P64L
c.191C>T
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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."