Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.Q47K

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.Q47K
c.139C>A
Surrounding Variants
2 papers
NM_001368894.2
p.Q47*
c.139C>T
5 papers
NM_001368894.2
p.Q47E
c.139C>G
1 paper
NM_001368894.2
p.L46L
c.138G>C
1 paper
NM_001368894.2
p.L46L
c.138G>A
2 papers
NM_001368894.2
p.Q47L
c.140A>T
12 papers
NM_001368894.2
p.Q47R
c.140A>G
5 papers
NM_001368894.2
p.Q47P
c.140A>C
12 papers
NM_001368894.2
p.L46R
c.137T>G
14 papers
NM_001368894.2
p.L46P
c.137T>C
2 papers
NM_001368894.2
p.L46Q
c.137T>A
1 paper
NM_001368894.2
p.Q47H
c.141G>T
1 paper
NM_001368894.2
p.Q47H
c.141G>C
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