Varaico: Literature-Extracted Genetic Variants

Gene:PAX6
Variant:p.S24Y

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.S24Y
c.71C>A
Surrounding Variants
1 paper
NM_001368894.2
p.S24F
c.71C>T
1 paper
NM_001368894.2
p.S24C
c.71C>G
1 paper
NM_001368894.2
p.S24insFs
c.71_72insG
2 papers
NM_001368894.2
p.S24A
c.70T>G
1 paper
NM_001368894.2
p.S24P
c.70T>C
1 paper
NM_001368894.2
p.S24T
c.70T>A
1 paper
NM_001368894.2
p.D23delFs
c.69delG
1 paper
NM_001368894.2
p.D23E
c.69C>G
1 paper
NM_001368894.2
p.D23E
c.69C>A
1 paper
NM_001368894.2
p.T25S
c.73A>T
3 papers
NM_001368894.2
p.T25A
c.73A>G
1 paper
NM_001368894.2
p.T25P
c.73A>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."