Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.G12D

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
4 papers
NM_001368894.2
p.G12D
c.35G>A
Surrounding Variants
3 papers
NM_001368894.2
p.G12V
c.35G>T
2 papers
NM_001368894.2
p.G12A
c.35G>C
1 paper
NM_001368894.2
p.G12delins
c.35_36delinsTG
1 paper
NM_001368894.2
p.G12delins
c.35_36delinsTA
1 paper
NM_001368894.2
p.G12fs
c.34_35fs
2 papers
NM_001368894.2
p.G12C
c.34G>T
10 papers
NM_001368894.2
p.G12R
c.34G>C
3 papers
NM_001368894.2
p.G12S
c.34G>A
1 paper
NM_001368894.2
p.G13C
c.37G>T
1 paper
NM_001368894.2
p.G12Fs
c.36delinsTTFs
1 paper
NM_001368894.2
p.G12Fs
c.36delinsTAFs
3 papers
NM_001368894.2
p.G13R
c.37G>C
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