Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.D41E

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.D41E
c.123C>G
Surrounding Variants
1 paper
NM_001368894.2
p.D41insFs
c.122dupA
2 papers
NM_001368894.2
p.D41E
c.123C>A
2 papers
NM_001368894.2
p.I42fs
c.124_125fs
2 papers
NM_001368894.2
p.D41V
c.122A>T
1 paper
NM_001368894.2
p.I42F
c.124A>T
7 papers
NM_001368894.2
p.D41G
c.122A>G
1 paper
NM_001368894.2
p.I42V
c.124A>G
2 papers
NM_001368894.2
p.I42L
c.124A>C
1 paper
NM_001368894.2
p.D41A
c.122A>C
1 paper
NM_001368894.2
p.D41insFs
c.121_122ins4
1 paper
NM_001368894.2
p.D41insFs
c.122_123ins4
3 papers
NM_001368894.2
p.R38_D41delFs
c.114_121del8
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