Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.E244delFs

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
1 paper
NM_001368894.2
p.E244delFs
c.731delT
Surrounding Variants
1 paper
NM_001368894.2
p.E244insFs
c.731dupA
1 paper
NM_001368894.2
p.F243_E244del1
c.729_731delTCA
1 paper
NM_001368894.2
p.R245I
c.734G>T
1 paper
NM_000280.6
p.E230*
c.688G>T
1 paper
NM_001368894.2
p.E244K
c.730G>A
2 papers
NM_001368894.2
p.R245delFs
c.733delT
1 paper
NM_001368894.2
p.T246A
c.736A>G
2 papers
NM_001368894.2
p.E244delFs
c.730_731delTC
1 paper
NM_001368894.2
p.E244_R245delFs
c.732_735del4
1 paper
NM_001368894.2
p.E244_R245del2
c.730_734del6
2 papers
NM_000280.6
p.E228fs
c.682_683fs
3 papers
NM_001368894.2
p.E242Splc
c.725-1G>A
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