Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.Q10*

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.Q10*
c.28C>T
Surrounding Variants
1 paper
NM_001368894.2
p.Q10E
c.28C>G
1 paper
NM_001368894.2
p.Q10K
c.28C>A
1 paper
NM_001368894.2
p.N9insFs
c.26dupA
1 paper
NM_001368894.2
p.N9K
c.27T>G
1 paper
NM_001368894.2
p.N9K
c.27T>A
1 paper
NM_001368894.2
p.Q10L
c.29A>T
1 paper
NM_001368894.2
p.Q10R
c.29A>G
1 paper
NM_001368894.2
p.Q10P
c.29A>C
1 paper
NM_001368894.2
p.Q10H
c.30G>T
1 paper
NM_001368894.2
p.Q10H
c.30G>C
5 papers
NM_001368894.2
p.N9I
c.26A>T
1 paper
NM_001368894.2
p.N9S
c.26A>G
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