Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.P39insFs

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
4 papers
NM_001368894.2
p.P39insFs
c.115_116dupCC
Surrounding Variants
1 paper
NM_001368894.2
p.P39P
c.117G>C
1 paper
NM_001368894.2
p.P39insFs
c.117dupG
2 papers
NM_001368894.2
p.P39_C40insFs
c.117_118ins4
1 paper
NM_001368894.2
p.C40G
c.118T>G
1 paper
NM_001368894.2
p.C40R
c.118T>C
1 paper
NM_001368894.2
p.C40S
c.118T>A
1 paper
NM_001368894.2
p.A37_P39del3
c.109_116del9
1 paper
NM_001368894.2
p.G36_P39delFs
c.108_117del10
2 papers
NM_001368894.2
p.P39L
c.116C>T
3 papers
NM_001368894.2
p.P39R
c.116C>G
1 paper
NM_001368894.2
p.P39Q
c.116C>A
1 paper
NM_001368894.2
p.C40fs
c.118_119fs
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