Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.E31G

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
1 paper
NM_001368894.2
p.E31G
c.92A>G
Surrounding Variants
1 paper
NM_001368894.2
p.E31V
c.92A>T
1 paper
NM_001368894.2
p.E31A
c.92A>C
2 papers
NM_001368894.2
p.E31D
c.93G>T
1 paper
NM_001368894.2
p.I29_V30insFs
c.87_90dup4
2 papers
NM_001368894.2
p.E31D
c.93G>C
1 paper
NM_001368894.2
p.E31Q
c.91G>C
1 paper
NM_001368894.2
p.E31K
c.91G>A
3 papers
NM_001368894.2
p.E31fs
c.91_92fs
1 paper
NM_001368894.2
p.L32L
c.94C>T
7 papers
NM_001368894.2
p.L32V
c.94C>G
1 paper
NM_001368894.2
p.L32I
c.94C>A
1 paper
NM_001368894.2
p.V30insFs
c.89dupT
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