Varaico: Literature-Extracted Genetic Variants

Gene:SP2
Variant:p.H545R

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.H545R
c.1634A>G
Surrounding Variants
1 paper
NM_003110.6
p.H545P
c.1634A>C
1 paper
NM_003110.6
p.T550S
c.1648A>T
1 paper
NM_003110.6
p.T550S
c.1649C>G
1 paper
NM_003110.6
p.T539M
c.1616C>T
1 paper
NM_003110.6
p.G551D
c.1652G>A
1 paper
NM_003110.6
p.R553W
c.1657C>T
1 paper
NM_003110.6
p.D531N
c.1591G>A
1 paper
NM_003110.6
p.F560L
c.1678T>C
1 paper
NM_003110.6
p.F560L
c.1680C>A
1 paper
NM_003110.6
p.F560L
c.1680C>G
1 paper
NM_003110.6
p.G563E
c.1688G>A
1 paper
NM_003110.6
p.V526M
c.1576G>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."