Varaico: Literature-Extracted Genetic Variants

Gene:PAX7
Variant:p.K117fs

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.K117fs
c.349_350fs
Surrounding Variants
1 paper
NM_001135254.2
p.K116Q
c.346A>C
1 paper
NM_001135254.2
p.I118L
c.352A>C
1 paper
NM_001135254.2
p.K117delFs
c.350delA
1 paper
NM_001135254.2
p.Y121H
c.361T>C
2 papers
NM_001135254.2
p.P112L
c.335C>T
1 paper
NM_001135254.2
p.K122R
c.365A>G
1 paper
NM_001135254.2
p.T111I
c.332C>T
1 paper
NM_001135254.2
p.K122K
c.366G>A
1 paper
NM_001135254.2
p.R123insFs
c.368_369insC
1 paper
NM_001135254.2
p.A110V
c.329C>T
1 paper
NM_001135254.2
p.R123S
c.369G>C
1 paper
NM_001135254.2
p.R123S
c.369G>T
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