Varaico: Literature-Extracted Genetic Variants

Gene:PAX7
Variant:p.A63T

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.A63T
c.187G>A
Surrounding Variants
1 paper
NM_001135254.2
p.M62I
c.186G>A
1 paper
NM_001135254.2
p.M62I
c.186G>C
1 paper
NM_001135254.2
p.M62I
c.186G>T
2 papers
NM_001135254.2
p.I59M
c.177A>G
1 paper
NM_001135254.2
p.I59L
c.175A>T
1 paper
NM_001135254.2
p.R68W
c.202C>T
1 paper
NM_001135254.2
p.H57Q
c.171C>A
1 paper
NM_001135254.2
p.H57Q
c.171C>G
1 paper
NM_001135254.2
p.R68Q
c.203G>A
1 paper
NM_001135254.2
p.R56L
c.167G>T
4 papers
NM_001135254.2
p.R56C
c.166C>T
1 paper
NM_001135254.2
p.V71_I72insFs
c.213_214insT
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."