Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.V14I

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.V14I
c.40G>A
Surrounding Variants
1 paper
NM_001368894.2
p.V14F
c.40G>T
1 paper
NM_001368894.2
p.V14L
c.40G>C
1 paper
NM_001368894.2
p.V14fs
c.40_41fs
1 paper
NM_001368894.2
p.G12Fs
c.36delinsTGFs
1 paper
NM_001368894.2
p.V14G
c.41T>G
1 paper
NM_001368894.2
p.V14A
c.41T>C
1 paper
NM_001368894.2
p.V14D
c.41T>A
1 paper
NM_001368894.2
p.G13G
c.39T>A
1 paper
NM_001368894.2
p.G13del1
c.37_39delACC
5 papers
NM_001368894.2
p.G13V
c.38G>T
4 papers
NM_001368894.2
p.G13A
c.38G>C
3 papers
NM_001368894.2
p.G13D
c.38G>A
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