Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.D236E

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_000280.6
p.D236E
c.708T>G
Surrounding Variants
1 paper
NM_000280.6
p.D236E
c.708T>A
1 paper
NM_001368894.2
p.D250A
c.749A>C
1 paper
NM_000280.6
p.D236fs
c.706_707fs
1 paper
NM_001368894.2
p.P249delFs
c.747delT
1 paper
NM_001368894.2
p.V251_F252insFs
c.753_754insTA
1 paper
NM_001368910.2
p.V318V
c.954G>A
1 paper
NM_000280.6
p.P235insFs
c.704dupC
2 papers
NM_001368894.2
p.P249delFs
c.745delG
1 paper
NM_001127612.3
p.F238_A239ins4
c.712_716ins12
1 paper
NM_001368894.2
p.F252I
c.754T>A
1 paper
NM_001368894.2
p.F252fs
c.754_755fs
1 paper
NM_001368894.2
p.P249T
c.745C>A
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