Varaico: Literature-Extracted Genetic Variants

Gene:PAX9
Variant:p.R77G

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
6 papers
NM_001372076.1
p.R77G
c.229C>G
Surrounding Variants
1 paper
NM_001372076.1
p.R77fs
c.229_230fs
1 paper
NM_001372076.1
p.R77fs
c.229_230fs
3 papers
NM_001372076.1
p.R77Q
c.230G>A
1 paper
NM_001372076.1
p.K75_P76insFs
c.225_226insAC
7 papers
NM_001372076.1
p.R77_P81delFs
c.230_242del13
4 papers
NM_001372076.1
p.T79insFs
c.236_237insAC
1 paper
NM_001372076.1
p.T79S
c.235A>T
3 papers
NM_001372076.1
p.S74fs
c.220_221fs
1 paper
NM_001372076.1
p.T80fs
c.238_239fs
9 papers
NM_001372076.1
p.T80A
c.238A>G
2 papers
NM_001372076.1
p.S74G
c.220A>G
1 paper
NM_001372076.1
p.T80delFs
c.239delC
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