Varaico: Literature-Extracted Genetic Variants

Gene:PAX7
Variant:p.P149delFs

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.P149delFs
c.445delC
Surrounding Variants
1 paper
NM_001135254.2
p.V148_P149delins
c.444_445delinsTG
1 paper
NM_001135254.2
p.P149A
c.445C>G
1 paper
NM_001135254.2
p.S150fs
c.448_449fs
1 paper
NM_001135254.2
p.S146R
c.438C>A
4 papers
NM_001135254.2
p.R145*
c.433C>T
1 paper
NM_001135254.2
p.K139M
c.416A>T
1 paper
NM_001135254.2
p.E132D
c.396G>C
1 paper
NM_001135254.2
p.E132D
c.396G>T
1 paper
NM_001135254.2
p.G127D
c.380G>A
1 paper
NM_001135254.2
p.R123S
c.369G>C
1 paper
NM_001135254.2
p.R123S
c.369G>T
1 paper
NM_001135254.2
p.R123insFs
c.368_369insC
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