Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.R19L

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
3 papers
NM_001368894.2
p.R19L
c.56G>T
Surrounding Variants
8 papers
NM_001368894.2
p.R19P
c.56G>C
3 papers
NM_001368894.2
p.R19Q
c.56G>A
3 papers
NM_001368894.2
p.R19W
c.55C>T
1 paper
NM_001368894.2
p.R19G
c.55C>G
5 papers
NM_001368894.2
p.P20S
c.58C>T
1 paper
NM_001368894.2
p.P20A
c.58C>G
1 paper
NM_001368894.2
p.P20insFs
c.58_59ins7
1 paper
NM_001368894.2
p.P20T
c.58C>A
1 paper
NM_001368894.2
p.R19delFs
c.57delC
1 paper
NM_001368894.2
p.P20fs
c.58_59fs
6 papers
NM_001368894.2
p.G18V
c.53G>T
3 papers
NM_001368894.2
p.G18A
c.53G>C
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