Varaico: Literature-Extracted Genetic Variants

Gene:PAX7
Variant:p.V29Splc

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
3 papers
NM_001135254.2
p.V29Splc
c.86-1G>A
Surrounding Variants
3 papers
NM_001135254.2
p.V29V
c.87G>A
1 paper
NM_001135254.2
p.P32L
c.95C>T
1 paper
NM_001135254.2
p.G36G
c.108C>T
1 paper
NM_001135254.2
p.R37W
c.109C>T
1 paper
NM_001135254.2
p.V38delFs
c.112delG
1 paper
NM_001135254.2
p.V29Splc
c.86-30C>T
1 paper
NM_001135254.2
p.V29Splc
c.86-32C>T
1 paper
NM_001135254.2
p.Q40P
c.119A>C
1 paper
NM_001135254.2
p.Q40L
c.119A>T
1 paper
NM_001135254.2
p.L41Q
c.122T>A
1 paper
NM_001135254.2
p.G43insFs
c.127dupG
4 papers
NM_001135254.2
p.R56C
c.166C>T
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."