Varaico: Literature-Extracted Genetic Variants

Gene:PRRX1
Variant:p.D126G

PRRX1

78 papers

RefSeq Summary

The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription co-activator, enhancing the DNA...

Pfam Domains

Homeodomainaa 95–151UCSCHomeodomain
OARaa 219–235UCSCOAR motif

Gene Aliases

HGNC Name

paired related homeobox 1

HGNC Previous Symbol

PMX1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022716.4
p.D126G
c.377A>G
Surrounding Variants
1 paper
NM_022716.4
p.E125*
c.373G>T
1 paper
NM_022716.4
p.E125fs
c.373_374fs
3 papers
NM_022716.4
p.R124Q
c.371G>A
1 paper
NM_022716.4
p.R124delFs
c.372delA
1 paper
NM_022716.4
p.R129H
c.386G>A
1 paper
NM_022716.4
p.H117Q
c.351C>A
1 paper
NM_022716.4
p.H117Q
c.351C>G
2 papers
NM_022716.4
p.R115W
c.343C>T
2 papers
NM_022716.4
p.F113L
c.339T>A
2 papers
NM_022716.4
p.F113L
c.339T>G
7 papers
NM_022716.4
p.F113S
c.338T>C
2 papers
NM_022716.4
p.F113L
c.337T>C
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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."