Varaico: Literature-Extracted Genetic Variants

Gene:PAX4
Variant:p.P119S

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.P119S
c.355C>T
Surrounding Variants
2 papers
NM_001366110.1
p.P119L
c.356C>T
1 paper
NM_001366110.1
p.Q115H
c.345G>T
1 paper
NM_001366110.1
p.Q115H
c.345G>C
1 paper
NM_001366110.1
p.T114I
c.341C>T
1 paper
NM_001366110.1
p.L107F
c.319C>T
1 paper
NM_001366110.1
p.R105H
c.314G>A
1 paper
NM_001366110.1
p.R105C
c.313C>T
1 paper
NM_001366110.1
p.G93_E94delFs
c.278_281del4
1 paper
NM_001366110.1
p.C95S
c.284G>C
1 paper
NM_001366110.1
p.C95S
c.283T>A
1 paper
NM_001366110.1
p.E94G
c.281A>G
2 papers
NM_001366110.1
p.G93S
c.277G>A
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