Varaico: Literature-Extracted Genetic Variants

Gene:PRRX1
Variant:p.R95Q

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.R95Q
c.284G>A
Surrounding Variants
2 papers
NM_022716.4
p.R95*
c.283C>T
2 papers
NM_022716.4
p.R96M
c.287G>T
1 paper
NM_022716.4
p.N97fs
c.289_290fs
1 paper
NM_022716.4
p.N97delFs
c.291delT
1 paper
NM_022716.4
p.R92I
c.275G>T
1 paper
NM_022716.4
p.R98M
c.293G>T
2 papers
NM_022716.4
p.R92fs
c.274_275fs
1 paper
NM_022716.4
p.K90fs
c.268_269fs
2 papers
NM_022716.4
p.K90fs
c.268_269fs
1 paper
NM_022716.4
p.K89R
c.266A>G
1 paper
NM_022716.4
p.K89_K90ins0
c.267_269dupAAA
2 papers
NM_022716.4
p.K89_K90insFs
c.266_269dup4
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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."