Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.A37_C40delFs

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.A37_C40delFs
c.111_120del10
Surrounding Variants
1 paper
NM_001368894.2
p.D41Y
c.121G>T
2 papers
NM_001368894.2
p.D41H
c.121G>C
1 paper
NM_001368894.2
p.D41N
c.121G>A
1 paper
NM_001368894.2
p.C40W
c.120C>G
16 papers
NM_001368894.2
p.C40*
c.120C>A
1 paper
NM_001368894.2
p.K28_C40del0
c.84_119del36
2 papers
NM_001368894.2
p.D41V
c.122A>T
7 papers
NM_001368894.2
p.D41G
c.122A>G
1 paper
NM_001368894.2
p.D41A
c.122A>C
1 paper
NM_001368894.2
p.D41insFs
c.121_122ins4
1 paper
NM_001368894.2
p.D41insFs
c.122_123ins4
3 papers
NM_001368894.2
p.R38_D41delFs
c.114_121del8
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