Varaico: Literature-Extracted Genetic Variants

Gene:PAX7
Variant:p.R215C

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
2 papers
NM_001135254.2
p.R215C
c.643C>T
Surrounding Variants
6 papers
NM_001135254.2
p.R215H
c.644G>A
1 paper
NM_001135254.2
p.L213_K214insT
c.637_641ins3
1 paper
NM_001135254.2
p.Q217*
c.649C>T
1 paper
NM_001135254.2
p.R219C
c.655C>T
1 paper
NM_001135254.2
p.P209L
c.626C>T
1 paper
NM_001135254.2
p.R221insFs
c.661_662ins8
1 paper
NM_001135254.2
p.R221fs
c.661_662fs
1 paper
NM_001135254.2
p.P209S
c.625C>T
1 paper
NM_001135254.2
p.E208_T222delFs
c.624_664del41
1 paper
NM_001135254.2
p.T225M
c.674C>T
1 paper
NM_001135254.2
p.E201G
c.602A>G
1 paper
NM_001135254.2
p.R198W
c.592C>T
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