Varaico: Literature-Extracted Genetic Variants

Gene:SPI1
Variant:p.Q226E

SPI1

188 papers

RefSeq Summary

This gene encodes an ETS-domain transcription factor that activates gene expression during myeloid and B-lymphoid cell development. The nuclear protein binds to a purine-rich sequence known as the PU-...

Pfam Domains

Etsaa 169–253UCSCEts-domain

Gene Aliases

HGNC Name

Spi-1 proto-oncogene

HGNC Alias Symbols

PU.1; SPI-A; OF; SFPI1; SPI-1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
4 papers
NM_003120.3
p.Q226E
c.676C>G
Surrounding Variants
1 paper
NM_003120.3
p.R230C
c.688C>T
1 paper
NM_001080547.2
p.K223Q
c.667A>C
1 paper
NM_003120.3
p.A231S
c.691G>T
1 paper
NM_003120.3
p.R220H
c.659G>A
1 paper
NM_003120.3
p.L232fs
c.694_695fs
1 paper
NM_003120.3
p.R233H
c.698G>A
1 paper
NM_003120.3
p.Q216*
c.646C>T
1 paper
NM_003120.3
p.T238A
c.712A>G
1 paper
NM_003120.3
p.G239A
c.716G>C
1 paper
NM_003120.3
p.E240A
c.719A>C
1 paper
NM_003120.3
p.H211P
c.632A>C
1 paper
NM_003120.3
p.V241G
c.722T>G
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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."