Varaico: Literature-Extracted Genetic Variants

Gene:PAX4
Variant:p.R172W

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
3 papers
NM_001366110.1
p.R172W
c.514C>T
Surrounding Variants
1 paper
NM_001366110.1
p.R172Q
c.515G>A
1 paper
NM_001366110.1
p.R174L
c.521G>T
1 paper
NM_001366110.1
p.P167P
c.501A>T
1 paper
NM_001366110.1
p.F177V
c.529T>G
1 paper
NM_001366110.1
p.F177Y
c.530T>A
4 papers
NM_001366110.1
p.G164D
c.491G>A
1 paper
NM_001366110.1
p.S180N
c.539G>A
1 paper
NM_001366110.1
p.R163P
c.488G>C
6 papers
NM_001366110.1
p.R163W
c.487C>T
1 paper
NM_001366110.1
p.Q181L
c.542A>T
1 paper
NM_001366110.1
p.E183Q
c.547G>C
1 paper
NM_001366110.1
p.E183K
c.547G>A
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