Varaico: Literature-Extracted Genetic Variants

Gene:PAX4
Variant:p.R200S

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.R200S
c.598C>A
Surrounding Variants
1 paper
NM_001366110.1
p.R200C
c.598C>T
5 papers
NM_001366110.1
p.R200H
c.599G>A
1 paper
NM_001366110.1
p.L203L
c.607C>T
1 paper
NM_001366110.1
p.Q193delFs
c.579delC
6 papers
NM_001366110.1
p.G192E
c.575G>A
1 paper
NM_001366110.1
p.G192W
c.574G>T
1 paper
NM_001366110.1
p.R191C
c.571C>T
1 paper
NM_001366110.1
p.L209L
c.627G>A
2 papers
NM_001366110.1
p.F189F
c.567C>T
1 paper
NM_001366110.1
p.P210H
c.629C>A
14 papers
NM_001366110.1
p.E188Splc
c.563-1G>A
1 paper
NM_001366110.1
p.E188Splc
c.563-2A>G
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