Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.R26delFs

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
2 papers
NM_001368894.2
p.R26delFs
c.78delC
Surrounding Variants
1 paper
NM_001368894.2
p.Q27fs
c.79_80fs
1 paper
NM_001368894.2
p.Q27*
c.79C>T
1 paper
NM_001368894.2
p.Q27E
c.79C>G
1 paper
NM_001368894.2
p.Q27K
c.79C>A
1 paper
NM_001368894.2
p.R26fs
c.76_77fs
1 paper
NM_001368894.2
p.Q27L
c.80A>T
1 paper
NM_001368894.2
p.Q27R
c.80A>G
2 papers
NM_001368894.2
p.Q27P
c.80A>C
2 papers
NM_001368894.2
p.Q27H
c.81G>T
1 paper
NM_001368894.2
p.R26L
c.77G>T
1 paper
NM_001368894.2
p.R26insFs
c.77_78insT
9 papers
NM_001368894.2
p.R26P
c.77G>C
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