Varaico: Literature-Extracted Genetic Variants

Gene:PAX9
Variant:p.D113fs

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
2 papers
NM_001372076.1
p.D113fs
c.337_338fs
Surrounding Variants
1 paper
NM_001372076.1
p.D113N
c.337G>A
1 paper
NM_001372076.1
p.C112W
c.336C>G
31 papers
NM_001372076.1
p.K114*
c.340A>T
6 papers
NM_001372076.1
p.V111M
c.331G>A
2 papers
NM_001372076.1
p.G110_V111insFs
c.330_331insGT
3 papers
NM_001372076.1
p.N116I
c.347A>T
1 paper
NM_001372076.1
p.D109_G110insG
c.325_329ins3
6 papers
NM_001372076.1
p.P118insFs
c.353_354ins4
3 papers
NM_001372076.1
p.V117G
c.350T>G
1 paper
NM_001372076.1
p.A108G
c.323C>G
1 paper
NM_001372076.1
p.A108V
c.323C>T
3 papers
NM_001372076.1
p.P118delFs
c.352delC
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