Varaico: Literature-Extracted Genetic Variants

Gene:PAX9
Variant:p.I131I

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.I131I
c.393C>T
Surrounding Variants
1 paper
NM_001372076.1
p.G132delFs
c.394delG
1 paper
NM_001372076.1
p.G132fs
c.394_395fs
1 paper
NM_001372076.1
p.I131_L134del4
c.391_401del12
2 papers
NM_001372076.1
p.N133S
c.398A>G
8 papers
NM_001372076.1
p.Q136*
c.406C>T
1 paper
NM_001372076.1
p.Q137*
c.409C>T
1 paper
NM_001372076.1
p.S122Y
c.365C>A
1 paper
NM_001372076.1
p.Y143H
c.427T>C
11 papers
NM_001372076.1
p.Y143C
c.428A>G
1 paper
NM_001372076.1
p.K144*
c.430A>T
5 papers
NM_001372076.1
p.S119fs
c.355_356fs
3 papers
NM_001372076.1
p.S119fs
c.355_356fs
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."