Varaico: Literature-Extracted Genetic Variants

Gene:PAX9
Variant:p.P152S

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.P152S
c.454C>T
Surrounding Variants
1 paper
NM_001372076.1
p.P152R
c.455C>G
1 paper
NM_001372076.1
p.Q151_P152insFs
c.453_454ins5
1 paper
NM_001372076.1
p.Q151H
c.453G>T
1 paper
NM_001372076.1
p.A153E
c.458C>A
1 paper
NM_001372076.1
p.L154M
c.460C>A
1 paper
NM_001372076.1
p.P150fs
c.448_449fs
1 paper
NM_001372076.1
p.T149delFs
c.447delG
1 paper
NM_001372076.1
p.P155T
c.463C>A
1 paper
NM_001372076.1
p.Q147*
c.439C>T
17 papers
NM_001372076.1
p.Q145*
c.433C>T
1 paper
NM_001372076.1
p.K144*
c.430A>T
11 papers
NM_001372076.1
p.Y143C
c.428A>G
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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."