Varaico: Literature-Extracted Genetic Variants

Gene:PAX7
Variant:p.D428N

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.D428N
c.1282G>A
Surrounding Variants
1 paper
NM_001135254.2
p.A427A
c.1281C>T
1 paper
NM_001135254.2
p.S435C
c.1303A>T
1 paper
NM_001135254.2
p.S420L
c.1259C>T
1 paper
NM_001135254.2
p.S418S
c.1254C>T
2 papers
NM_001135254.2
p.S439F
c.1316C>T
1 paper
NM_001135254.2
p.A416T
c.1246G>A
1 paper
NM_001135254.2
p.A441T
c.1321G>A
1 paper
NM_001135254.2
p.C443Y
c.1328G>A
1 paper
NM_001135254.2
p.P444S
c.1330C>T
4 papers
NM_001135254.2
p.G412S
c.1234G>A
2 papers
NM_001135254.2
p.G411R
c.1231G>C
1 paper
NM_001135254.2
p.P408Q
c.1223C>A
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