Varaico: Literature-Extracted Genetic Variants

Gene:SP2
Variant:p.A491A

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.A491A
c.1473C>T
Surrounding Variants
1 paper
NM_003110.6
p.G497R
c.1489G>A
1 paper
NM_003110.6
p.G497R
c.1489G>C
1 paper
NM_003110.6
p.E498*
c.1492G>T
2 papers
NM_003110.6
p.R502C
c.1504C>T
1 paper
NM_003110.6
p.N509D
c.1525A>G
1 paper
NM_003110.6
p.C510Y
c.1529G>A
1 paper
NM_003110.6
p.R516W
c.1546A>T
1 paper
NM_003110.6
p.R516Splc
c.1547+76T>C
1 paper
NM_003110.6
p.E519A
c.1556A>C
1 paper
NM_003110.6
p.V526M
c.1576G>A
1 paper
NM_003110.6
p.D531N
c.1591G>A
1 paper
NM_003110.6
p.T539M
c.1616C>T
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."