Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.R26G

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
42 papers
NM_001368894.2
p.R26G
c.76C>G
Surrounding Variants
1 paper
NM_001368894.2
p.R26fs
c.76_77fs
9 papers
NM_001368894.2
p.R26W
c.76C>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
6 papers
NM_001368894.2
p.R26Q
c.77G>A
1 paper
NM_001368894.2
p.R26fs
c.76_77fs
1 paper
NM_001368894.2
p.T25I
c.74C>T
1 paper
NM_001368894.2
p.T25S
c.74C>G
1 paper
NM_001368894.2
p.T25N
c.74C>A
1 paper
NM_001368894.2
p.Q27fs
c.79_80fs
1 paper
NM_001368894.2
p.Q27*
c.79C>T
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