Varaico: Literature-Extracted Genetic Variants

Gene:PAX9
Variant:p.N116I

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
3 papers
NM_001372076.1
p.N116I
c.347A>T
Surrounding Variants
6 papers
NM_001372076.1
p.P118insFs
c.353_354ins4
3 papers
NM_001372076.1
p.V117G
c.350T>G
3 papers
NM_001372076.1
p.P118delFs
c.352delC
1 paper
NM_001372076.1
p.P118_S119insFs
c.354_355ins4
1 paper
NM_001372076.1
p.P118S
c.352C>T
1 paper
NM_001372076.1
p.P118insFs
c.353_354insTG
31 papers
NM_001372076.1
p.K114*
c.340A>T
1 paper
NM_001372076.1
p.P118P
c.354C>G
5 papers
NM_001372076.1
p.S119fs
c.355_356fs
3 papers
NM_001372076.1
p.S119fs
c.355_356fs
1 paper
NM_001372076.1
p.D113N
c.337G>A
2 papers
NM_001372076.1
p.D113fs
c.337_338fs
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