Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.D262_L263insFs

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.D262_L263insFs
c.786_787ins10
Surrounding Variants
1 paper
NM_001368894.2
p.R256_D262delFs
c.767_786del20
1 paper
NM_000280.6
p.L249fs
c.745_746fs
2 papers
NM_000280.6
p.L249delFs
c.745delG
1 paper
NM_001368894.2
p.K260insFs
c.778_779insA
1 paper
NM_001368894.2
p.I261T
c.782T>C
1 paper
NM_001368894.2
p.K260delFs
c.778delT
1 paper
NM_001368894.2
p.E265_A266insC
c.793_797ins3
1 paper
NM_001368894.2
p.E265K
c.793G>A
1 paper
NM_001368894.2
p.K260R
c.779A>G
2 papers
NM_001368894.2
p.K260*
c.778A>T
2 papers
NM_001368894.2
p.E265insFs
c.794_795insT
1 paper
NM_001368894.2
p.E265fs
c.793_794fs
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