Varaico: Literature-Extracted Genetic Variants

Gene:SP2
Variant:p.L269P

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
2 papers
NM_003110.6
p.L269P
c.806T>C
Surrounding Variants
1 paper
NM_003110.6
p.T267M
c.800C>T
1 paper
NM_003110.6
p.A274A
c.822G>A
1 paper
NM_003110.6
p.E263delFs
c.789delG
1 paper
NM_003110.6
p.A260V
c.779C>T
1 paper
NM_003110.6
p.P258S
c.772C>T
1 paper
NM_003110.6
p.L284_L285delFs
c.852_855del4
1 paper
NM_003110.6
p.G293R
c.877G>C
1 paper
NM_003110.6
p.G293V
c.878G>T
1 paper
NM_003110.6
p.A296T
c.886G>A
1 paper
NM_003110.6
p.S241A
c.721T>G
1 paper
NM_003110.6
p.L231F
c.691C>T
2 papers
NM_003110.6
p.A227S
c.679G>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."