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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRRX2

Variant:p.E47D

PRRX2

23 papers

RefSeq Summary

The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins. Expression is localized to proliferating fetal fibroblasts and the developing dermal layer, with ...

Pfam Domains

Homeodomainaa 105–161UCSCHomeodomain

OARaa 226–243UCSCOAR motif

Gene Aliases

HGNC Name

paired related homeobox 2

HGNC Alias Symbols

PRX2; PMX2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr9:129666008 A>T

NM_016307.4

p.E47D

c.141A>T

Exome: 0.0% (AC=0, hom=0)Genome: n/a11 overlapping SVs

Surrounding Variants

1 paper

chr9:129666008 A>C

NM_016307.4

p.E47D

c.141A>C

exact variant not in gnomAD11 overlapping SVs

1 paper

chr9:129666037 C>G

NM_016307.4

p.A57G

c.170C>G

exact variant not in gnomAD11 overlapping SVs

1 paper

chr9:129665952 G>A

NM_016307.4

p.G29S

c.85G>A

Exome: 0.0% (AC=76, hom=0)Genome: 0.0% (AC=4, hom=0)12 overlapping SVs

1 paper

chr9:129665868 A>G

NM_016307.4

p.M1V

c.1A>G

Exome: 0.0% (AC=0, hom=0)Genome: 0.0% (AC=4, hom=0)12 overlapping SVs

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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."