Varaico: Literature-Extracted Genetic Variants

Gene:PAX9
Variant:p.R230H

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.R230H
c.689G>A
Surrounding Variants
2 papers
NM_001372076.1
p.R230_N242del13
c.688_725del39
3 papers
NM_001372076.1
p.S227R
c.681C>A
3 papers
NM_001372076.1
p.S227R
c.681C>G
1 paper
NM_001372076.1
p.F233L
c.697T>C
3 papers
NM_001372076.1
p.S227R
c.679A>C
1 paper
NM_001372076.1
p.F233L
c.699C>A
1 paper
NM_001372076.1
p.F233L
c.699C>G
1 paper
NM_001372076.1
p.P234S
c.700C>T
1 paper
NM_001372076.1
p.S226N
c.677G>A
1 paper
NM_001372076.1
p.S226I
c.677G>T
1 paper
NM_001372076.1
p.A235T
c.703G>A
1 paper
NM_001372076.1
p.A235A
c.705C>T
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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."