Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.V30I

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.V30I
c.88G>A
Surrounding Variants
1 paper
NM_001368894.2
p.V30L
c.88G>T
1 paper
NM_001368894.2
p.V30L
c.88G>C
1 paper
NM_001368894.2
p.V30fs
c.88_89fs
1 paper
NM_001368894.2
p.V30G
c.89T>G
1 paper
NM_001368894.2
p.I29M
c.87T>G
1 paper
NM_001368894.2
p.V30A
c.89T>C
1 paper
NM_001368894.2
p.V30E
c.89T>A
1 paper
NM_001368894.2
p.V30delFs
c.88delC
8 papers
NM_001368894.2
p.I29S
c.86T>G
4 papers
NM_001368894.2
p.I29T
c.86T>C
1 paper
NM_001368894.2
p.I29N
c.86T>A
2 papers
NM_001368894.2
p.K28del1
c.82_83delCTT
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