Varaico: Literature-Extracted Genetic Variants

Gene:PAX9
Variant:p.V83L

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.V83L
c.247G>C
Surrounding Variants
1 paper
NM_001372076.1
p.V83L
c.247G>T
1 paper
NM_001372076.1
p.T82fs
c.244_245fs
1 paper
NM_001372076.1
p.T82fs
c.244_245fs
5 papers
NM_001372076.1
p.H86_R88insFs
c.256_262dup7
1 paper
NM_001372076.1
p.T80fs
c.238_239fs
9 papers
NM_001372076.1
p.T80A
c.238A>G
1 paper
NM_001372076.1
p.T80delFs
c.239delC
3 papers
NM_001372076.1
p.T80fs
c.238_239fs
21 papers
NM_001372076.1
p.I87F
c.259A>T
1 paper
NM_001372076.1
p.T79S
c.235A>T
1 paper
NM_001372076.1
p.R88insFs
c.262dupC
4 papers
NM_001372076.1
p.T79insFs
c.236_237insAC
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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."