Varaico: Literature-Extracted Genetic Variants

Gene:SP2

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
1–12 of 116 variants
3 papers
NM_003110.6
p.A431V
c.1292C>T
2 papers
NM_003110.6
p.A227S
c.679G>T
2 papers
NM_003110.6
p.L269P
c.806T>C
2 papers
NM_003110.6
p.G457G
c.1371C>T
2 papers
NM_003110.6
p.R502C
c.1504C>T
2 papers
NM_003110.6
p.R584C
c.1750C>T
1 paper
NM_003110.6
p.M1I
c.3G>C
1 paper
NM_003110.6
p.M1_S2insFs
c.3_4insT
1 paper
NM_003110.6
p.S2delFs
c.5delG
1 paper
NM_003110.6
p.P4R
c.11C>G
1 paper
NM_003110.6
p.Q5R
c.14A>G
1 paper
NM_003110.6
p.S7N
c.20G>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."