Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.R267G

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.R267G
c.799A>G
Surrounding Variants
6 papers
NM_001368894.2
p.R267*
c.799A>T
1 paper
NM_001368894.2
p.A258_E265del8
c.772_794del24
1 paper
NM_001368894.2
p.R267I
c.800G>T
1 paper
NM_001368894.2
p.R267T
c.800G>C
1 paper
NM_001368894.2
p.R267K
c.800G>A
2 papers
NM_001368894.2
p.A266fs
c.796_797fs
1 paper
NM_001368894.2
p.A266delFs
c.796delC
1 paper
NM_001368894.2
p.R267S
c.801A>T
1 paper
NM_001368894.2
p.R267S
c.801A>C
1 paper
NM_001368894.2
p.E265delFs
c.795delT
1 paper
NM_001368894.2
p.E265fs
c.793_794fs
1 paper
NM_000280.6
p.E251_A252insFs
c.753_754insTA
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