Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.G7V

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.G7V
c.20G>T
Surrounding Variants
1 paper
NM_001368894.2
p.G7A
c.20G>C
1 paper
NM_001368894.2
p.G7E
c.20G>A
5 papers
NM_001368894.2
p.G7*
c.19G>T
5 papers
NM_001368894.2
p.G7R
c.19G>C
5 papers
NM_001368894.2
p.G7R
c.19G>A
2 papers
NM_001368894.2
p.G7G
c.21A>T
2 papers
NM_001368894.2
p.G7insFs
c.19dupG
1 paper
NM_001368894.2
p.G7fs
c.19_20fs
1 paper
NM_001368894.2
p.V8L
c.22G>T
1 paper
NM_001368894.2
p.V8L
c.22G>C
2 papers
NM_001368894.2
p.V8M
c.22G>A
1 paper
NM_001368894.2
p.G7delFs
c.21delT
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