Varaico: Literature-Extracted Genetic Variants

Gene:PAX9
Variant:p.A108P

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
5 papers
NM_001372076.1
p.A108P
c.322G>C
Surrounding Variants
4 papers
NM_001372076.1
p.A108fs
c.322_323fs
2 papers
NM_001372076.1
p.A108_D109insG
c.322_326ins3
2 papers
NM_001372076.1
p.A108fs
c.322_323fs
1 paper
NM_001372076.1
p.A108G
c.323C>G
1 paper
NM_001372076.1
p.A108V
c.323C>T
8 papers
NM_001372076.1
p.L107_A108insFs
c.321_322insG
1 paper
NM_001372076.1
p.L107fs
c.319_320fs
1 paper
NM_001372076.1
p.D109_G110insG
c.325_329ins3
2 papers
NM_001372076.1
p.G110_V111insFs
c.330_331insGT
1 paper
NM_001372076.1
p.R105H
c.314G>A
6 papers
NM_001372076.1
p.V111M
c.331G>A
1 paper
NM_001372076.1
p.C112W
c.336C>G
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