Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.C40*

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
16 papers
NM_001368894.2
p.C40*
c.120C>A
Surrounding Variants
1 paper
NM_001368894.2
p.C40W
c.120C>G
1 paper
NM_001368894.2
p.K28_C40del0
c.84_119del36
1 paper
NM_001368894.2
p.D41Y
c.121G>T
1 paper
NM_001368894.2
p.C40F
c.119G>T
2 papers
NM_001368894.2
p.D41H
c.121G>C
1 paper
NM_001368894.2
p.C40S
c.119G>C
1 paper
NM_001368894.2
p.D41N
c.121G>A
1 paper
NM_001368894.2
p.C40Y
c.119G>A
1 paper
NM_001368894.2
p.R38_C40delins
c.114_119delinsAAT
1 paper
NM_001368894.2
p.R38_C40Fs
c.114_119delinsAATTTCCFs
1 paper
NM_001368894.2
p.A37_C40delFs
c.111_120del10
1 paper
NM_001368894.2
p.P39insFs
c.117dupG
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