Varaico: Literature-Extracted Genetic Variants

Gene:PAX7
Variant:p.A259V

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
6 papers
NM_001135254.2
p.A259V
c.776C>T
Surrounding Variants
1 paper
NM_001135254.2
p.R260C
c.778C>T
1 paper
NM_001135254.2
p.R260P
c.779G>C
3 papers
NM_001135254.2
p.T257T
c.771A>C
3 papers
NM_001135254.2
p.L256L
c.766C>T
1 paper
NM_001135254.2
p.Q262_V263Splc
c.786+1G>A
1 paper
NM_001135254.2
p.R253S
c.759G>C
1 paper
NM_001135254.2
p.R253S
c.759G>T
1 paper
NM_001135254.2
p.Q262_V263Splc
c.786+8G>A
3 papers
NM_001135254.2
p.E248E
c.744G>A
1 paper
NM_001135254.2
p.E248K
c.742G>A
1 paper
NM_001135254.2
p.Y241C
c.722A>G
1 paper
NM_001135254.2
p.H240Y
c.718C>T
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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."