Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.P22R

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.P22R
c.65C>G
Surrounding Variants
2 papers
NM_001368894.2
p.P22L
c.65C>T
1 paper
NM_001368894.2
p.P22insFs
c.65_66ins4
1 paper
NM_001368894.2
p.P22Q
c.65C>A
1 paper
NM_001368894.2
p.P22_D23insFs
c.66_67ins4
1 paper
NM_001368894.2
p.P22fs
c.64_65fs
2 papers
NM_001368894.2
p.P22S
c.64C>T
1 paper
NM_001368894.2
p.P22A
c.64C>G
1 paper
NM_001368894.2
p.P22T
c.64C>A
1 paper
NM_001368894.2
p.D23Y
c.67G>T
1 paper
NM_001368894.2
p.L21fs
c.61_62fs
1 paper
NM_001368894.2
p.D23H
c.67G>C
1 paper
NM_001368894.2
p.D23N
c.67G>A
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