Varaico: Literature-Extracted Genetic Variants

Gene:PAX4
Variant:p.T64delFs

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.T64delFs
c.192delT
Surrounding Variants
1 paper
NM_001366110.1
p.G65D
c.194G>A
1 paper
NM_001366110.1
p.T64I
c.191C>T
1 paper
NM_001366110.1
p.R63H
c.188G>A
1 paper
NM_001366110.1
p.R63C
c.187C>T
1 paper
NM_001366110.1
p.E68K
c.202G>A
1 paper
NM_001366110.1
p.R60H
c.179G>A
1 paper
NM_001366110.1
p.G71A
c.212G>C
1 paper
NM_001366110.1
p.S75_K76insFs
c.225_226insAC
1 paper
NM_001366110.1
p.G52D
c.155G>A
1 paper
NM_001366110.1
p.L79L
c.235C>T
1 paper
NM_001366110.1
p.T81R
c.242C>G
1 paper
NM_001366110.1
p.R87Q
c.260G>A
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