Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.K28M

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.K28M
c.83A>T
Surrounding Variants
2 papers
NM_001368894.2
p.K28R
c.83A>G
1 paper
NM_001368894.2
p.K28T
c.83A>C
2 papers
NM_001368894.2
p.K28N
c.84G>T
2 papers
NM_001368894.2
p.K28N
c.84G>C
2 papers
NM_001368894.2
p.K28E
c.82A>G
1 paper
NM_001368894.2
p.K28Q
c.82A>C
2 papers
NM_001368894.2
p.Q27H
c.81G>T
2 papers
NM_001368894.2
p.Q27H
c.81G>C
1 paper
NM_001368894.2
p.I29F
c.85A>T
8 papers
NM_001368894.2
p.I29V
c.85A>G
1 paper
NM_001368894.2
p.I29L
c.85A>C
8 papers
NM_001368894.2
p.I29S
c.86T>G
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