Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.H34fs

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
2 papers
NM_001368894.2
p.H34fs
c.100_101fs
Surrounding Variants
2 papers
NM_001368894.2
p.H34Y
c.100C>T
1 paper
NM_001368894.2
p.H34D
c.100C>G
1 paper
NM_001368894.2
p.H34N
c.100C>A
1 paper
NM_001368894.2
p.H34L
c.101A>T
1 paper
NM_001368894.2
p.H34R
c.101A>G
1 paper
NM_001368894.2
p.H34P
c.101A>C
1 paper
NM_001368894.2
p.A33V
c.98C>T
1 paper
NM_001368894.2
p.H34Q
c.102C>G
1 paper
NM_001368894.2
p.A33G
c.98C>G
1 paper
NM_001368894.2
p.H34insFs
c.101_102insA
1 paper
NM_001368894.2
p.H34Q
c.102C>A
1 paper
NM_001368894.2
p.A33D
c.98C>A
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