Varaico: Literature-Extracted Genetic Variants

Gene:PAX9
Variant:p.S214G

PAX9

214 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 4–128UCSC'Paired box' domain

Gene Aliases

HGNC Name

paired box 9

HGNC Previous Name

paired box gene 9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
9 papers
NM_001372076.1
p.S214G
c.640A>G
Surrounding Variants
3 papers
NM_001372076.1
p.D213N
c.637G>A
1 paper
NM_001372076.1
p.D213fs
c.637_638fs
3 papers
NM_001372076.1
p.P216_Y217insFs
c.648_649insC
1 paper
NM_001372076.1
p.D213insFs
c.637dupG
2 papers
NM_001372076.1
p.V211fs
c.631_632fs
2 papers
NM_001372076.1
p.Y217fs
c.649_650fs
7 papers
NM_001372076.1
p.H218_S219insG
c.652_656ins3
1 paper
NM_001372076.1
p.S219_P220insG
c.655_659ins3
1 paper
NM_001372076.1
p.S219G
c.655A>G
1 paper
NM_001372076.1
p.P220L
c.659C>T
1 paper
NM_001372076.1
p.V222L
c.664G>T
1 paper
NM_001372076.1
p.V222_E223insFs
c.666_667insA
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