Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.L11P

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.L11P
c.32T>C
Surrounding Variants
1 paper
NM_001368894.2
p.L11R
c.32T>G
1 paper
NM_001368894.2
p.L11H
c.32T>A
1 paper
NM_001368894.2
p.G7_L11delFs
c.19_31del13
2 papers
NM_001368894.2
p.L11F
c.31C>T
1 paper
NM_001368894.2
p.L11V
c.31C>G
1 paper
NM_001368894.2
p.L11L
c.33C>A
1 paper
NM_001368894.2
p.L11I
c.31C>A
1 paper
NM_001368894.2
p.G12fs
c.34_35fs
2 papers
NM_001368894.2
p.G12C
c.34G>T
1 paper
NM_001368894.2
p.Q10H
c.30G>T
10 papers
NM_001368894.2
p.G12R
c.34G>C
1 paper
NM_001368894.2
p.Q10H
c.30G>C
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