Varaico: Literature-Extracted Genetic Variants

Gene:PAX9
Variant:p.L21P

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
33 papers
NM_001372076.1
p.L21P
c.62T>C
Surrounding Variants
1 paper
NM_001372076.1
p.P22S
c.64C>T
10 papers
NM_001372076.1
p.P20L
c.59C>T
1 paper
NM_001372076.1
p.P22L
c.65C>T
3 papers
NM_001372076.1
p.P20fs
c.58_59fs
6 papers
NM_001372076.1
p.P20fs
c.58_59fs
1 paper
NM_001372076.1
p.P20insFs
c.58_59ins7
11 papers
NM_001372076.1
p.P20delFs
c.59delC
1 paper
NM_001372076.1
p.N23delFs
c.69delC
1 paper
NM_001372076.1
p.A24_R26insFs
c.72_76dup5
8 papers
NM_001372076.1
p.I25del1
c.73_75delATC
2 papers
NM_001372076.1
p.G18W
c.52G>T
1 paper
NM_001372076.1
p.N17K
c.51C>A
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