Varaico: Literature-Extracted Genetic Variants

Gene:PAX4
Variant:p.G239C

PAX4

132 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 5–129UCSC'Paired box' domain
Homeodomainaa 171–227UCSCHomeodomain

Gene Aliases

HGNC Name

paired box 4

HGNC Alias Symbol

MODY9

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001366110.1
p.G239C
c.715G>T
Surrounding Variants
1 paper
NM_001366110.1
p.L231_M235delFs
c.693_703del11
1 paper
NM_001366110.1
p.E229K
c.685G>A
2 papers
NM_001366110.1
p.R227W
c.679C>T
3 papers
NM_001366110.1
p.R226H
c.677G>A
1 paper
NM_001366110.1
p.R226C
c.676C>T
1 paper
NM_001366110.1
p.W225*
c.675G>A
1 paper
NM_001366110.1
p.W225*
c.674G>A
1 paper
NM_001366110.1
p.A223D
c.668C>A
1 paper
NM_001366110.1
p.R215_V216Splc
c.645+1G>A
1 paper
NM_001366110.1
p.P210_R215del0
c.630_644del15
1 paper
NM_001366110.1
p.V214M
c.640G>A
1 paper
NM_001366110.1
p.T213M
c.638C>T
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