Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.R256_L257ins1

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.R256_L257ins1
c.768_769insGAG
Surrounding Variants
1 paper
NM_001368894.2
p.R256S
c.768A>T
1 paper
NM_001368894.2
p.R256S
c.768A>C
4 papers
NM_000280.6
p.R242T
c.725G>C
NM_001368894.2
p.R256T
c.767G>C
1 paper
NM_000280.6
p.L243L
c.727C>T
1 paper
NM_001368894.2
p.R256_L257insFs
c.768_769insAG
2 papers
NM_001368894.2
p.L257P
c.770T>C
1 paper
NM_001368894.2
p.A258T
c.772G>A
3 papers
NM_001368894.2
p.E255G
c.764A>G
1 paper
NM_001368894.2
p.A258V
c.773C>T
1 paper
NM_001368894.2
p.R254P
c.761G>C
1 paper
NM_001368894.2
p.A259T
c.775G>A
1 paper
NM_001368894.2
p.R254Q
c.761G>A
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