Varaico: Literature-Extracted Genetic Variants

Gene:PAX7
Variant:p.P306_D307insFs

PAX7

192 papers

RefSeq Summary

This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These g...

Pfam Domains

PAXaa 34–161UCSC'Paired box' domain
Homeodomainaa 218–274UCSCHomeodomain
Pax7aa 345–385UCSCPaired box protein 7

Gene Aliases

HGNC Name

paired box 7

HGNC Alias Symbol

Hup1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001135254.2
p.P306_D307insFs
c.918_919insG
Surrounding Variants
2 papers
NM_001135254.2
p.P306L
c.917C>T
1 paper
NM_001135254.2
p.S308_T309insFs
c.924_925insG
1 paper
NM_001135254.2
p.T309fs
c.925_926fs
1 paper
NM_001135254.2
p.P302S
c.904C>T
1 paper
NM_001135254.2
p.P311P
c.933C>T
1 paper
NM_001135254.2
p.T299T
c.897G>A
1 paper
NM_001135254.2
p.P298S
c.892C>T
1 paper
NM_001135254.2
p.M297I
c.891G>A
1 paper
NM_001135254.2
p.S316Y
c.947C>A
1 paper
NM_001135254.2
p.D318G
c.953A>G
1 paper
NM_001135254.2
p.D318Splc
c.952+1G>C
3 papers
NM_001135254.2
p.D318Splc
c.952+2T>A
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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."