Varaico: Literature-Extracted Genetic Variants

Gene:PAX9
Variant:p.C40*

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.C40*
c.120T>A
Surrounding Variants
1 paper
NM_001372076.1
p.C40delFs
c.118delT
1 paper
NM_001372076.1
p.I42S
c.125T>G
1 paper
NM_001372076.1
p.R38Q
c.113G>A
2 papers
NM_001372076.1
p.R38*
c.112C>T
1 paper
NM_001372076.1
p.R38fs
c.112_113fs
10 papers
NM_001372076.1
p.S43N
c.128G>A
9 papers
NM_001372076.1
p.S43R
c.129C>A
1 paper
NM_001372076.1
p.R44fs
c.130_131fs
1 paper
NM_001372076.1
p.R44_Q45delFs
c.131_134del4
3 papers
NM_001372076.1
p.I37insFs
c.110_111insG
1 paper
NM_001372076.1
p.R38delFs
c.112delC
7 papers
NM_001372076.1
p.I37insFs
c.109_110insG
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