Varaico: Literature-Extracted Genetic Variants

Gene:PAX4
Variant:p.R141W

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
2 papers
NM_001366110.1
p.R141W
c.421C>T
Surrounding Variants
1 paper
NM_001366110.1
p.L137_P138del2
c.409_413del6
1 paper
NM_001366110.1
p.N125_P138del0
c.374_412del39
1 paper
NM_001366110.1
p.A146Splc
c.436+1G>C
9 papers
NM_001366110.1
p.R129W
c.385C>T
1 paper
NM_001366110.1
p.R126Q
c.377G>A
2 papers
NM_001366110.1
p.R126*
c.376C>T
1 paper
NM_001366110.1
p.S122_S123insCT
c.364_368ins6
1 paper
NM_001366110.1
p.V121V
c.363C>T
2 papers
NM_001366110.1
p.P119L
c.356C>T
1 paper
NM_001366110.1
p.P119S
c.355C>T
1 paper
NM_001366110.1
p.Q115H
c.345G>T
1 paper
NM_001366110.1
p.Q115H
c.345G>C
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