Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.N17fs

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
2 papers
NM_001368894.2
p.N17fs
c.49_50fs
Surrounding Variants
1 paper
NM_001368894.2
p.N17Y
c.49A>T
1 paper
NM_001368894.2
p.N17D
c.49A>G
1 paper
NM_001368894.2
p.N17H
c.49A>C
1 paper
NM_001368894.2
p.N17I
c.50A>T
9 papers
NM_001368894.2
p.N17S
c.50A>G
1 paper
NM_001368894.2
p.N17T
c.50A>C
1 paper
NM_001368894.2
p.V16G
c.47T>G
1 paper
NM_001368894.2
p.V16A
c.47T>C
1 paper
NM_001368894.2
p.V16D
c.47T>A
7 papers
NM_001368894.2
p.N17K
c.51C>G
2 papers
NM_001368894.2
p.N17insFs
c.50dupA
7 papers
NM_001368894.2
p.N17K
c.51C>A
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