Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.Q27R

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.Q27R
c.80A>G
Surrounding Variants
1 paper
NM_001368894.2
p.Q27L
c.80A>T
2 papers
NM_001368894.2
p.Q27P
c.80A>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.Q27fs
c.79_80fs
1 paper
NM_001368894.2
p.Q27*
c.79C>T
1 paper
NM_001368894.2
p.Q27E
c.79C>G
1 paper
NM_001368894.2
p.Q27K
c.79C>A
2 papers
NM_001368894.2
p.R26delFs
c.78delC
1 paper
NM_001368894.2
p.R26fs
c.76_77fs
2 papers
NM_001368894.2
p.K28E
c.82A>G
1 paper
NM_001368894.2
p.K28Q
c.82A>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."