Varaico: Literature-Extracted Genetic Variants

Gene:PAX9
Variant:p.P189_H196insFs

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
1 paper
NM_001372076.1
p.P189_H196insFs
c.566_588dup23
Surrounding Variants
2 papers
NM_001372076.1
p.P189A
c.565C>G
1 paper
NM_001372076.1
p.P189S
c.565C>T
1 paper
NM_001372076.1
p.S185*
c.554C>A
1 paper
NM_001372076.1
p.W192S
c.575G>C
1 paper
NM_001372076.1
p.G184S
c.550G>A
5 papers
NM_001372076.1
p.S194F
c.581C>T
1 paper
NM_001372076.1
p.S194_S195ins1
c.582_583insCAG
1 paper
NM_001372076.1
p.A181T
c.541G>A
1 paper
NM_001372076.1
p.S197fs
c.589_590fs
2 papers
NM_001372076.1
p.V198_T199insFs
c.592_596dup5
1 paper
NM_001372076.1
p.P180A
c.538C>G
5 papers
NM_001372076.1
p.V198delFs
c.592delG
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