Varaico: Literature-Extracted Genetic Variants

Gene:PRRX1
Variant:p.E110A

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.E110A
c.329A>C
Surrounding Variants
1 paper
NM_022716.4
p.E110*
c.328G>T
1 paper
NM_022716.4
p.R111S
c.331C>A
1 paper
NM_022716.4
p.R111G
c.331C>G
1 paper
NM_022716.4
p.V112L
c.334G>C
2 papers
NM_022716.4
p.F113L
c.337T>C
7 papers
NM_022716.4
p.F113S
c.338T>C
1 paper
NM_022716.4
p.Q107*
c.319C>T
2 papers
NM_022716.4
p.F113L
c.339T>A
2 papers
NM_022716.4
p.F113L
c.339T>G
1 paper
NM_022716.4
p.L106P
c.317T>C
2 papers
NM_022716.4
p.R115W
c.343C>T
1 paper
NM_022716.4
p.Q105R
c.314A>G
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