Varaico: Literature-Extracted Genetic Variants

Gene:PAX4

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
1–12 of 124 variants
14 papers
NM_001366110.1
p.E188Splc
c.563-1G>A
9 papers
NM_001366110.1
p.R129W
c.385C>T
6 papers
NM_001366110.1
p.R163W
c.487C>T
6 papers
NM_001366110.1
p.G192E
c.575G>A
5 papers
NM_001366110.1
p.R200H
c.599G>A
4 papers
NM_001366110.1
p.G164D
c.491G>A
3 papers
NM_001366110.1
p.R39Q
c.116G>A
3 papers
NM_001366110.1
p.R172W
c.514C>T
3 papers
NM_001366110.1
p.R200S
c.598C>A
3 papers
NM_001366110.1
p.R226H
c.677G>A
2 papers
NM_001366110.1
p.G37E
c.110G>A
2 papers
NM_001366110.1
p.G93S
c.277G>A
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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."