Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.A259T

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.A259T
c.775G>A
Surrounding Variants
1 paper
NM_001368894.2
p.A259V
c.776C>T
1 paper
NM_001368894.2
p.A259insFs
c.776_777insG
1 paper
NM_001368894.2
p.A258V
c.773C>T
1 paper
NM_001368894.2
p.A258T
c.772G>A
2 papers
NM_001368894.2
p.K260*
c.778A>T
1 paper
NM_001368894.2
p.K260R
c.779A>G
2 papers
NM_001368894.2
p.L257P
c.770T>C
1 paper
NM_000280.6
p.L243L
c.727C>T
1 paper
NM_001368894.2
p.R256_L257insFs
c.768_769insAG
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
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