Varaico: Literature-Extracted Genetic Variants

Gene:PAX7
Variant:p.R268C

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.R268C
c.802C>T
Surrounding Variants
2 papers
NM_001135254.2
p.N267K
c.801C>A
2 papers
NM_001135254.2
p.N267K
c.801C>G
1 paper
NM_001135254.2
p.A270T
c.808G>A
1 paper
NM_001135254.2
p.A270insFs
c.810dupC
1 paper
NM_001135254.2
p.R271C
c.811C>T
1 paper
NM_001135254.2
p.R271H
c.812G>A
2 papers
NM_001135254.2
p.R273H
c.818G>A
1 paper
NM_001135254.2
p.A278_L281del4
c.832_842del12
2 papers
NM_001135254.2
p.A282V
c.845C>T
1 paper
NM_001135254.2
p.F292L
c.874T>C
1 paper
NM_001135254.2
p.F292L
c.876C>A
1 paper
NM_001135254.2
p.F292L
c.876C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."