Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.P39A

PAX6

773 papers

RefSeq Summary

This gene encodes paired box protein Pax-6, one of many human homologs of the Drosophila melanogaster gene prd. In addition to a conserved paired box domain, a hallmark feature of this gene family, th...

Pfam Domains

PAXaa 4–128UCSC'Paired box' domain
Homeodomainaa 211–267UCSCHomeodomain

Gene Aliases

HGNC Name

paired box 6

HGNC Previous Symbols

AN1; AN2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001368894.2
p.P39A
c.115C>G
Surrounding Variants
4 papers
NM_001368894.2
p.P39fs
c.115_116fs
1 paper
NM_001368894.2
p.P39S
c.115C>T
1 paper
NM_001368894.2
p.R38insFs
c.114dupG
1 paper
NM_001368894.2
p.G36_R38insFs
c.107_114dup8
1 paper
NM_001368894.2
p.P39T
c.115C>A
2 papers
NM_001368894.2
p.R38fs
c.112_113fs
2 papers
NM_001368894.2
p.P39L
c.116C>T
3 papers
NM_001368894.2
p.P39R
c.116C>G
1 paper
NM_001368894.2
p.P39Q
c.116C>A
1 paper
NM_001368894.2
p.R38L
c.113G>T
1 paper
NM_001368894.2
p.R38insFs
c.112dupC
4 papers
NM_001368894.2
p.P39insFs
c.115_116dupCC
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